ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.51A>C (p.Ala17=)

dbSNP: rs2140344816
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001480331 SCV001684647 likely benign Tay-Sachs disease 2020-09-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001480331 SCV002089765 likely benign Tay-Sachs disease 2021-08-19 no assertion criteria provided clinical testing

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