ClinVar Miner

Submissions for variant NM_020435.4(GJC2):c.1096dup (p.Asp366fs)

dbSNP: rs1391047082
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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, RCV001260245 SCV001430988 uncertain significance Hypomyelinating leukodystrophy 2 no assertion criteria provided clinical testing

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