ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.192C>T (p.Pro64=)

gnomAD frequency: 0.01474  dbSNP: rs111754012
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117037 SCV000151160 benign not specified 2013-04-16 criteria provided, single submitter clinical testing
GeneDx RCV000117037 SCV000168554 benign not specified 2014-04-01 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.
Invitae RCV000227021 SCV000290694 benign Walker-Warburg congenital muscular dystrophy 2024-02-01 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000117037 SCV000314264 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576519 SCV000677299 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 2017-05-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811960 SCV001470734 benign not provided 2020-10-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002408618 SCV002721240 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: 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000117037 SCV004038558 benign not specified 2023-08-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272536 SCV001454626 benign Autosomal recessive limb-girdle muscular dystrophy type 2I 2020-09-16 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000117037 SCV001917147 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000117037 SCV001964885 benign not specified no assertion criteria provided clinical testing

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