ClinVar Miner

Submissions for variant NM_006859.4(LIAS):c.884-14T>A

gnomAD frequency: 0.30396  dbSNP: rs2125314
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126623 SCV000170130 benign not specified 2013-10-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001517034 SCV001725424 benign Lipoic acid synthetase deficiency 2025-02-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001517034 SCV001981365 benign Lipoic acid synthetase deficiency 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717043 SCV005299071 benign not provided criteria provided, single submitter not provided

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