ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.496T>C (p.Cys166Arg) (rs1603271659)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000850501 SCV000992703 likely pathogenic Myopathy, reducing body, X-linked, childhood-onset; Myopathy, reducing body, X-linked, early-onset, severe; Myopathy with postural muscle atrophy, X-linked; Uruguay faciocardiomusculoskeletal syndrome; Scapuloperoneal myopathy, X-linked dominant 2018-10-12 criteria provided, single submitter clinical testing

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