ClinVar Miner

Submissions for variant NM_006859.4(LIAS):c.475G>A (p.Glu159Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, RCV001174542 SCV001334150 uncertain significance Pyruvate dehydrogenase lipoic acid synthetase deficiency no assertion criteria provided clinical testing

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