ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.360C>T (p.Tyr120=) (rs781576638)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634088 SCV000755366 likely benign Walker-Warburg congenital muscular dystrophy 2017-12-21 criteria provided, single submitter clinical testing
GeneDx RCV000840164 SCV000982083 likely benign not provided 2018-03-20 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.

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