ClinVar Miner

Submissions for variant NM_006859.4(LIAS):c.1063G>C (p.Ala355Pro)

dbSNP: rs1745058899
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Molecular Medicine, Children’s Hospital of Fudan University RCV001257440 SCV001433997 likely pathogenic Lipoic acid synthetase deficiency 2020-07-07 no assertion criteria provided clinical testing

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