Invitae: Invitae Variant Interpretations

Reported variants and their clinical significance

Description:

Invitae has provided high quality clinical grade genetic information to millions of patients. This data set shares our most up-to-date variant interpretations from variants we have encountered during clinical testing. It can be used as training data for variant interpretation algorithms, help to prioritize genes for additional study, or be used to investigate the clinical significance of specific genetic variants.

Samples/Tables Included:
– INTERPRETATION

Fields Included:
– Gene name
– Transcript
– Variant (HGVS c. name)
– Protein effect (pname)
– Clinical significance
– Variant Details

About the Provider:

Invitae Corporation is a leading medical genetics company whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae’s goal is to aggregate the world’s genetic tests into a single service with higher quality, faster turnaround time, and lower prices.

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