ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.243C>T (p.Cys81=)

gnomAD frequency: 0.00004  dbSNP: rs777580253
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000548736 SCV000647045 likely benign X-linked myopathy with postural muscle atrophy 2024-01-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002420478 SCV002718241 likely benign Cardiovascular phenotype 2020-06-11 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.
PreventionGenetics, part of Exact Sciences RCV003900197 SCV004714641 likely benign FHL1-related disorder 2020-09-03 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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