ClinVar Miner

Submissions for variant NM_001159702.3(FHL1):c.797G>A (p.Arg266Gln)

gnomAD frequency: 0.00001  dbSNP: rs199818971
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420669 SCV000534840 uncertain significance not provided 2020-03-19 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000696108 SCV000824655 uncertain significance X-linked myopathy with postural muscle atrophy 2021-09-02 criteria provided, single submitter clinical testing

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