ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.816C>T (p.Ala272=)

gnomAD frequency: 0.00007  dbSNP: rs376665169
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000925802 SCV001071352 likely benign Holocarboxylase synthetase deficiency 2024-02-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704328 SCV005206283 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000925802 SCV002083745 likely benign Holocarboxylase synthetase deficiency 2020-02-17 no assertion criteria provided clinical testing

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