ClinVar Miner

Submissions for variant NM_000521.4(HEXB):c.1670A>G (p.Ter557=)

gnomAD frequency: 0.00016  dbSNP: rs576145664
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 RCV001279185 SCV001640978 likely benign Sandhoff disease 2024-12-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279185 SCV001466268 uncertain significance Sandhoff disease 2020-04-03 no assertion criteria provided clinical testing

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