ClinVar Miner

Submissions for variant NM_003688.3(CASK):c.846C>G (p.Tyr282Ter) (rs886128077)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000763625 SCV000894491 pathogenic Mental retardation and microcephaly with pontine and cerebellar hypoplasia; FG syndrome 4; Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2018-10-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000502372 SCV000593857 pathogenic Mental retardation and microcephaly with pontine and cerebellar hypoplasia 2016-09-29 criteria provided, single submitter clinical testing
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes RCV000656243 SCV000778203 pathogenic not provided 2016-06-07 no assertion criteria provided clinical testing

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