ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.886G>T (p.Glu296Ter)

dbSNP: rs760029192
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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. RCV001264062 SCV001442162 likely pathogenic Holocarboxylase synthetase deficiency 2019-12-28 criteria provided, single submitter clinical testing

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