ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.575dup (p.Tyr192Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV003314504 SCV004013943 likely pathogenic Myopathy, reducing body, X-linked, early-onset, severe 2022-10-18 criteria provided, single submitter clinical testing PVS1, PM2

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