ClinVar Miner

Submissions for variant NM_000521.4(HEXB):c.670-8G>A

dbSNP: rs2112156271
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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 RCV002153764 SCV002461960 likely benign Sandhoff disease 2020-11-03 criteria provided, single submitter clinical testing

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