ClinVar Miner

Submissions for variant NM_003688.3(CASK):c.1465C>T (p.Arg489Trp) (rs1114167352)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000491353 SCV000299215 pathogenic Smith-Magenis Syndrome-like 2016-08-15 criteria provided, single submitter research
Mendelics RCV000990798 SCV001141837 likely pathogenic Mental retardation and microcephaly with pontine and cerebellar hypoplasia 2019-05-28 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000844926 SCV000986741 not provided CASK-Related Disorder no assertion provided phenotyping only Variant interpretted as pathogenic and reported on 12/21/2017 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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