ClinVar Miner

Submissions for variant NM_000521.4(HEXB):c.1170-6T>C

dbSNP: rs2112179633
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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 RCV001485811 SCV001690258 likely benign Sandhoff disease 2019-05-16 criteria provided, single submitter clinical testing

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