ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.2465A>G (p.His822Arg)

gnomAD frequency: 0.00026  dbSNP: rs148868421
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 RCV001239672 SCV001412563 likely benign Holocarboxylase synthetase deficiency 2024-01-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001239672 SCV002083716 uncertain significance Holocarboxylase synthetase deficiency 2020-01-24 no assertion criteria provided clinical testing

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