ClinVar Miner

Submissions for variant NM_000147.5(FUCA1):c.404C>A (p.Thr135Lys)

dbSNP: rs779017131
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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, RCV001090129 SCV001245473 uncertain significance Fucosidosis no assertion criteria provided clinical testing

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