ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1434C>A (p.Cys478Ter)

dbSNP: rs2066882139
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV001264059 SCV001442159 likely pathogenic Holocarboxylase synthetase deficiency 2019-07-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV001264059 SCV004199865 likely pathogenic Holocarboxylase synthetase deficiency 2023-02-25 criteria provided, single submitter clinical testing

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