ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.612T>C (p.Cys204=)

gnomAD frequency: 0.00002  dbSNP: rs752193492
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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 RCV000471570 SCV000561348 likely benign X-linked myopathy with postural muscle atrophy 2024-01-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002350037 SCV002652354 likely benign Cardiovascular phenotype 2019-08-22 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.
CeGaT Center for Human Genetics Tuebingen RCV003886400 SCV004704244 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing FHL1: BP4

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