ClinVar Miner

Submissions for variant NM_000143.4(FH):c.240G>A (p.Lys80=)

dbSNP: rs1573888362
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001015442 SCV001176274 likely benign Hereditary cancer-predisposing syndrome 2018-01-31 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002550806 SCV002465687 likely benign not provided 2023-11-21 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001015442 SCV002535551 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-18 criteria provided, single submitter curation

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