ClinVar Miner

Submissions for variant NM_006859.4(LIAS):c.114C>G (p.Leu38=)

gnomAD frequency: 0.00004  dbSNP: rs750439302
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001312040 SCV001502458 likely benign not provided 2020-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001394353 SCV001596036 likely benign Lipoic acid synthetase deficiency 2023-12-29 criteria provided, single submitter clinical testing
GeneDx RCV001312040 SCV001804027 likely benign not provided 2021-06-08 criteria provided, single submitter clinical testing

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