ClinVar Miner

Submissions for variant NM_176806.4(MOCS2):c.18+1G>T

gnomAD frequency: 0.00001  dbSNP: rs554491390
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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, RCV001090122 SCV001245446 uncertain significance Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B no assertion criteria provided clinical testing

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