ClinVar Miner

Submissions for variant NM_000521.4(HEXB):c.670-14_670-13del

dbSNP: rs886060751
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000296290 SCV000458180 uncertain significance Sandhoff disease 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000296290 SCV003452051 likely benign Sandhoff disease 2024-02-26 criteria provided, single submitter clinical testing

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