ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.570G>A (p.Pro190=)

gnomAD frequency: 0.00001  dbSNP: rs780666266
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 RCV001424904 SCV001627511 likely benign Holocarboxylase synthetase deficiency 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003458048 SCV004183936 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing HLCS: BP4, BP7

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