ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.380-7T>C

gnomAD frequency: 0.00010  dbSNP: rs759571993
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000840166 SCV000982086 likely benign not provided 2018-03-20 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 RCV001088691 SCV001124048 likely benign X-linked myopathy with postural muscle atrophy 2024-01-20 criteria provided, single submitter clinical testing

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