ClinVar Miner

Submissions for variant NM_000143.4(FH):c.1077T>A (p.Pro359=)

gnomAD frequency: 0.00004  dbSNP: rs750535216
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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 RCV001312139 SCV000632432 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000562083 SCV000664479 likely benign Hereditary cancer-predisposing syndrome 2015-11-24 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.
GeneDx RCV001312139 SCV001767565 likely benign not provided 2019-02-14 criteria provided, single submitter clinical testing

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