ClinVar Miner

Submissions for variant NM_006859.4(LIAS):c.1023T>C (p.His341=)

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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 RCV003529621 SCV004305451 likely benign Lipoic acid synthetase deficiency 2024-04-26 criteria provided, single submitter clinical testing

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