ClinVar Miner

Submissions for variant NM_000521.4(HEXB):c.1536A>G (p.Arg512=)

gnomAD frequency: 0.00012  dbSNP: rs139971120
Minimum review status: Collection method:
Minimum conflict level:
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 RCV001399712 SCV001601508 likely benign Sandhoff disease 2025-01-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003883626 SCV004701487 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing HEXB: BP4, BP7

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