ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.380-16T>C

gnomAD frequency: 0.00004  dbSNP: rs772665517
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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 RCV002136885 SCV002407928 benign X-linked myopathy with postural muscle atrophy 2024-01-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003331301 SCV004038043 likely benign not specified 2023-08-19 criteria provided, single submitter clinical testing

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