ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.2144G>A (p.Trp715Ter)

dbSNP: rs1174060268
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002250044 SCV002516545 pathogenic Holocarboxylase synthetase deficiency 2022-05-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV002250044 SCV005049288 likely pathogenic Holocarboxylase synthetase deficiency 2023-12-18 criteria provided, single submitter clinical testing

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