ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1120C>T (p.Gln374Ter)

dbSNP: rs1415609256
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV001263878 SCV001441976 likely pathogenic Tay-Sachs disease 2020-04-12 criteria provided, single submitter clinical testing

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