ClinVar Miner

Submissions for variant NM_000143.4(FH):c.1299C>T (p.Asn433=)

gnomAD frequency: 0.00047  dbSNP: rs201994824
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001593084 SCV001010118 benign not provided 2024-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV001010585 SCV001170808 likely benign Hereditary cancer-predisposing syndrome 2018-08-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV001593084 SCV001824589 likely benign not provided 2019-11-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16477632)
Natera, Inc. RCV000868750 SCV002085295 likely benign Fumarase deficiency 2020-02-05 no assertion criteria provided clinical testing

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