ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.550-15C>A

gnomAD frequency: 0.00005  dbSNP: rs764137409
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000613463 SCV000715701 likely benign not specified 2017-12-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002529417 SCV003297215 likely benign X-linked myopathy with postural muscle atrophy 2024-01-24 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000613463 SCV004241434 likely benign not specified 2023-12-03 criteria provided, single submitter clinical testing

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