ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.636G>A (p.Ala212=) (rs370099812)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178352 SCV000230418 likely benign not specified 2014-07-18 criteria provided, single submitter clinical testing
GeneDx RCV000178352 SCV000513040 likely benign not specified 2018-01-23 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 RCV000471527 SCV000559438 benign Walker-Warburg congenital muscular dystrophy 2018-01-02 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000178352 SCV000613310 benign not specified 2017-06-14 criteria provided, single submitter clinical testing

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