ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.-34C>T

gnomAD frequency: 0.17414  dbSNP: rs3201779
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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) RCV000082170 SCV000114116 benign not specified 2012-11-15 criteria provided, single submitter clinical testing
GeneDx RCV000082170 SCV000168557 benign not specified 2013-12-21 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.
PreventionGenetics, part of Exact Sciences RCV000082170 SCV000314260 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001527240 SCV001738198 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 2021-06-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001527241 SCV001738199 benign Muscular dystrophy-dystroglycanopathy type B5 2021-06-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001527274 SCV001738232 benign Autosomal recessive limb-girdle muscular dystrophy type 2I 2021-06-10 criteria provided, single submitter clinical testing

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