ClinVar Miner

Submissions for variant NM_006859.4(LIAS):c.46-17A>G

dbSNP: rs2109867537
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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 RCV002201058 SCV002484584 likely benign Lipoic acid synthetase deficiency 2023-10-13 criteria provided, single submitter clinical testing

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