ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.855C>T (p.Gly285=)

gnomAD frequency: 0.00008  dbSNP: rs768518776
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001370375 SCV001566852 likely benign Tay-Sachs disease 2025-01-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001370375 SCV002085691 uncertain significance Tay-Sachs disease 2018-05-22 no assertion criteria provided clinical testing

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