ClinVar Miner

Submissions for variant NM_000147.5(FUCA1):c.82del (p.Val28fs)

dbSNP: rs1639666186
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences RCV001260240 SCV001244261 pathogenic Fucosidosis 2019-07-05 criteria provided, single submitter research
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, RCV001260240 SCV001430989 uncertain significance Fucosidosis no assertion criteria provided clinical testing

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