ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.1020C>T (p.Tyr340=) (rs77351928)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227694 SCV000290691 benign Walker-Warburg congenital muscular dystrophy 2017-12-20 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000243564 SCV000314261 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000243564 SCV000337232 benign not specified 2015-12-27 criteria provided, single submitter clinical testing
GeneDx RCV000243564 SCV000519104 likely benign not specified 2017-10-18 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.
Athena Diagnostics Inc RCV000711658 SCV000842045 benign not provided 2017-09-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000711658 SCV000885464 benign not provided 2017-12-26 criteria provided, single submitter clinical testing

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