ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.132C>T (p.Cys44=)

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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 RCV003624094 SCV004509031 likely benign X-linked myopathy with postural muscle atrophy 2023-03-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004373960 SCV005017658 likely benign Cardiovascular phenotype 2023-12-30 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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