ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1173G>T (p.Val391=)

dbSNP: rs575836910
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 RCV002215193 SCV002364697 likely benign Tay-Sachs disease 2024-02-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706303 SCV005211004 likely benign not provided criteria provided, single submitter not provided

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