ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.874_883del (p.Ser292fs)

dbSNP: rs2082666231
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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, RCV001255703 SCV001430137 uncertain significance Metachromatic leukodystrophy no assertion criteria provided clinical testing

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