ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.29C>T (p.Ala10Val)

dbSNP: rs1776518694
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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, RCV001254879 SCV001430135 uncertain significance Pontocerebellar hypoplasia type 6 no assertion criteria provided clinical testing

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