ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1875G>A (p.Thr625=)

gnomAD frequency: 0.00002  dbSNP: rs776800808
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 RCV000885436 SCV001028876 likely benign Holocarboxylase synthetase deficiency 2024-11-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV000885436 SCV001456939 likely benign Holocarboxylase synthetase deficiency 2020-09-16 no assertion criteria provided clinical testing

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