ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1477C>T (p.Leu493=)

gnomAD frequency: 0.00001  dbSNP: rs774313739
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001494247 SCV001698899 likely benign Tay-Sachs disease 2023-12-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001494247 SCV002085658 likely benign Tay-Sachs disease 2021-02-19 no assertion criteria provided clinical testing

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