ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.537G>C (p.Val179=)

gnomAD frequency: 0.00001  dbSNP: rs753535765
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000604836 SCV000722604 likely benign not specified 2017-09-05 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 RCV001502063 SCV001706886 likely benign X-linked myopathy with postural muscle atrophy 2022-12-29 criteria provided, single submitter clinical testing

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