ClinVar Miner

Submissions for variant NM_000521.4(HEXB):c.879G>C (p.Gly293=)

dbSNP: rs1208134816
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002075543 SCV002375518 likely benign Sandhoff disease 2021-08-22 criteria provided, single submitter clinical testing

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