ClinVar Miner

Submissions for variant NM_000143.4(FH):c.186G>A (p.Val62=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002466093 SCV002760612 uncertain significance not specified 2023-08-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002569350 SCV003290611 likely benign not provided 2023-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV003164723 SCV003905309 likely benign Hereditary cancer-predisposing syndrome 2023-01-31 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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