ClinVar Miner

Submissions for variant NM_006859.4(LIAS):c.705A>C (p.Ala235=)

dbSNP: rs111583368
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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 RCV001450764 SCV001654381 likely benign Lipoic acid synthetase deficiency 2024-12-16 criteria provided, single submitter clinical testing

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