ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.737A>G (p.Tyr246Cys)

dbSNP: rs765150200
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001277488 SCV002947698 likely benign Holocarboxylase synthetase deficiency 2023-08-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277488 SCV001464443 uncertain significance Holocarboxylase synthetase deficiency 2020-09-04 no assertion criteria provided clinical testing

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