ClinVar Miner

Submissions for variant NM_000521.4(HEXB):c.1039C>T (p.Gln347Ter)

dbSNP: rs1749652247
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV001264376 SCV001442480 likely pathogenic Sandhoff disease 2019-08-09 criteria provided, single submitter clinical testing

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