ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr)

dbSNP: rs772180415
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000207019 SCV000262575 pathogenic Tay-Sachs disease 2011-10-02 criteria provided, single submitter clinical testing This variant found to be pathogenic by online software including Mutation Taster, Polyphen2 and SIFT.
Counsyl RCV000207019 SCV000487232 likely pathogenic Tay-Sachs disease 2016-11-02 criteria provided, single submitter clinical testing
Invitae RCV000207019 SCV001400896 pathogenic Tay-Sachs disease 2021-09-01 criteria provided, single submitter clinical testing
PerkinElmer Genomics RCV000207019 SCV002023462 likely pathogenic Tay-Sachs disease 2019-06-10 no assertion criteria provided clinical testing

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