ClinVar Miner

Submissions for variant NM_000521.4(HEXB):c.1572C>T (p.Asp524=)

gnomAD frequency: 0.00005  dbSNP: rs770560389
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 RCV000919377 SCV001064723 likely benign Sandhoff disease 2024-02-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV000919377 SCV001458073 uncertain significance Sandhoff disease 2020-01-24 no assertion criteria provided clinical testing

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