ClinVar Miner

Submissions for variant NM_000521.4(HEXB):c.582T>C (p.Ile194=)

dbSNP: rs2112141535
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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 RCV002125512 SCV002446526 likely benign Sandhoff disease 2021-07-14 criteria provided, single submitter clinical testing

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