ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1961_1975dup (p.Leu654_Thr658dup)

dbSNP: rs2091774003
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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, RCV001250797 SCV001245475 uncertain significance Adrenoleukodystrophy no assertion criteria provided clinical testing

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