ClinVar Miner

Submissions for variant NM_005689.4(ABCB6):c.2000G>C (p.Gly667Ala)

gnomAD frequency: 0.00001  dbSNP: rs1377097612
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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, RCV001171505 SCV001334230 uncertain significance Microphthalmia, isolated, with coloboma 7 no assertion criteria provided clinical testing

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