ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1068G>A (p.Pro356=)

gnomAD frequency: 0.00006  dbSNP: rs73196003
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734554 SCV000862706 uncertain significance not provided 2018-08-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001428290 SCV001630987 likely benign Holocarboxylase synthetase deficiency 2024-03-04 criteria provided, single submitter clinical testing

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