ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.696T>C (p.Phe232=)

gnomAD frequency: 0.00005  dbSNP: rs758030097
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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 RCV000868424 SCV001009753 likely benign X-linked myopathy with postural muscle atrophy 2023-11-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002352555 SCV002656085 likely benign Cardiovascular phenotype 2021-10-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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