ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.408C>T (p.Thr136=)

gnomAD frequency: 0.00005  dbSNP: rs755900253
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000311913 SCV000332136 uncertain significance not provided 2015-06-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001412972 SCV001615074 likely benign X-linked myopathy with postural muscle atrophy 2023-06-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002450801 SCV002616453 likely benign Cardiovascular phenotype 2020-11-15 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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