ClinVar Miner

Submissions for variant NM_001159702.3(FHL1):c.760C>T (p.Arg254Cys)

gnomAD frequency: 0.00023  dbSNP: rs367592190
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000402513 SCV000344698 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002518119 SCV000767951 likely benign X-linked myopathy with postural muscle atrophy 2018-12-18 criteria provided, single submitter clinical testing

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