ClinVar Miner

Submissions for variant NM_006859.4(LIAS):c.46-5T>C

dbSNP: rs764526355
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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 RCV001395895 SCV001597613 likely benign Lipoic acid synthetase deficiency 2024-10-25 criteria provided, single submitter clinical testing

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