ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.54T>A (p.Leu18=)

gnomAD frequency: 0.00008  dbSNP: rs565563742
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000319756 SCV000343231 uncertain significance not provided 2016-07-18 criteria provided, single submitter clinical testing
Invitae RCV001085217 SCV001009898 likely benign Walker-Warburg congenital muscular dystrophy 2024-01-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000319756 SCV002543948 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing FKRP: BP4, BP7
Ambry Genetics RCV002348018 SCV002650175 benign Cardiovascular phenotype 2021-08-04 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.
PreventionGenetics, part of Exact Sciences RCV004535418 SCV004713477 likely benign FKRP-related disorder 2022-06-10 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001828260 SCV002088926 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2I 2020-11-29 no assertion criteria provided clinical testing

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