ClinVar Miner

Submissions for variant NM_006859.4(LIAS):c.393+8C>A

gnomAD frequency: 0.00149  dbSNP: rs201574806
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000529515 SCV000652151 benign Lipoic acid synthetase deficiency 2025-01-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002262778 SCV002544870 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing LIAS: BP4
Breakthrough Genomics, Breakthrough Genomics RCV002262778 SCV005299064 benign not provided criteria provided, single submitter not provided

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