ClinVar Miner

Submissions for variant NM_000143.4(FH):c.42C>A (p.Leu14=)

gnomAD frequency: 0.00001  dbSNP: rs1660322230
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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 RCV002554552 SCV001233873 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002327358 SCV002626721 likely benign Hereditary cancer-predisposing syndrome 2020-06-12 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.
Natera, Inc. RCV001068742 SCV002085909 uncertain significance Fumarase deficiency 2021-08-10 no assertion criteria provided clinical testing

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