ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.341C>G (p.Ala114Gly)

gnomAD frequency: 0.00910  dbSNP: rs143793528
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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000082175 SCV000114121 benign not specified 2017-04-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000082175 SCV000151162 benign not specified 2015-06-02 criteria provided, single submitter clinical testing
GeneDx RCV000082175 SCV000196816 benign not specified 2015-03-05 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.
Center for Genetic Medicine Research,Children's National Medical Center RCV000082175 SCV000265793 uncertain significance not specified 2015-12-01 criteria provided, single submitter research
Invitae RCV000227473 SCV000290697 benign Walker-Warburg congenital muscular dystrophy 2021-12-09 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082175 SCV000314266 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000711662 SCV000603719 benign not provided 2021-04-19 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000577971 SCV000679829 benign Autosomal recessive limb-girdle muscular dystrophy type 2I 2017-08-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711662 SCV000842049 benign not provided 2017-09-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000577971 SCV001737259 benign Autosomal recessive limb-girdle muscular dystrophy type 2I 2021-05-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563823 SCV001786859 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563824 SCV001786860 benign Muscular dystrophy-dystroglycanopathy type B5 2021-07-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000082175 SCV002051008 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000711662 SCV002563538 benign not provided 2022-09-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000577971 SCV001460333 benign Autosomal recessive limb-girdle muscular dystrophy type 2I 2020-06-12 no assertion criteria provided clinical testing

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