ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.1922G>A (p.Arg641Lys)

gnomAD frequency: 0.00003  dbSNP: rs76106850
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723901 SCV000202357 uncertain significance not provided 2014-04-09 criteria provided, single submitter clinical testing
GeneDx RCV000723901 SCV000528888 benign not provided 2020-08-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31139143)
Invitae RCV001086643 SCV000647905 benign Intellectual disability, CASK-related, X-linked 2024-01-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000723901 SCV001156004 benign not provided 2022-05-01 criteria provided, single submitter clinical testing CASK: PP2, BS1, BS2
Ambry Genetics RCV002408679 SCV002720660 benign Inborn genetic diseases 2018-03-20 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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