ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.2332T>G (p.Leu778Val)

gnomAD frequency: 0.00003  dbSNP: rs199517800
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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) RCV000734556 SCV000862708 uncertain significance not provided 2018-08-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001500597 SCV001705389 likely benign Holocarboxylase synthetase deficiency 2024-01-31 criteria provided, single submitter clinical testing

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