ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.585C>T (p.Asp195=)

gnomAD frequency: 0.01080  dbSNP: rs75079578
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082179 SCV000114125 benign not specified 2012-09-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082179 SCV000151164 benign not specified 2015-11-11 criteria provided, single submitter clinical testing
Invitae RCV001081711 SCV000290701 benign Walker-Warburg congenital muscular dystrophy 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000082179 SCV000314270 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000082179 SCV000513039 benign not specified 2015-07-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics RCV000576800 SCV000677300 benign Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 2017-05-24 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001727566 SCV000885463 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354283 SCV002647668 benign Cardiovascular phenotype 2018-12-24 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.
Fulgent Genetics, Fulgent Genetics RCV002505004 SCV002805481 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 2021-07-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000082179 SCV004038562 likely benign not specified 2023-08-19 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000082179 SCV001921930 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727566 SCV001972080 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001727566 SCV002037013 likely benign not provided no assertion criteria provided clinical testing

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