ClinVar Miner

Submissions for variant NM_006859.4(LIAS):c.405C>T (p.Asp135=)

gnomAD frequency: 0.00001  dbSNP: rs1458548365
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001494172 SCV001698821 likely benign Lipoic acid synthetase deficiency 2020-03-17 criteria provided, single submitter clinical testing

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