ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1635T>G (p.Pro545=)

dbSNP: rs2146336432
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001458054 SCV001661869 likely benign Holocarboxylase synthetase deficiency 2020-03-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704575 SCV005206278 likely benign not provided criteria provided, single submitter not provided

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