ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.569C>T (p.Pro190Leu)

gnomAD frequency: 0.00003  dbSNP: rs534858065
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 RCV001239462 SCV001412338 benign Holocarboxylase synthetase deficiency 2023-11-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001239462 SCV002083749 uncertain significance Holocarboxylase synthetase deficiency 2019-12-13 no assertion criteria provided clinical testing

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