ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.1353C>T (p.Pro451=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002766291 SCV003020773 likely benign Walker-Warburg congenital muscular dystrophy 2023-09-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003491148 SCV004241224 likely benign not specified 2023-12-03 criteria provided, single submitter clinical testing

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