ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.1179A>G (p.Val393=) (rs145894568)

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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 RCV000178362 SCV000230428 likely benign not specified 2015-05-21 criteria provided, single submitter clinical testing
GeneDx RCV000178362 SCV000513041 likely benign not specified 2017-10-26 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 RCV000539642 SCV000630829 benign Walker-Warburg congenital muscular dystrophy 2017-12-09 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711659 SCV000842046 benign not provided 2018-01-25 criteria provided, single submitter clinical testing

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