ClinVar Miner

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

dbSNP: rs1660322230
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005096539 SCV005844035 likely benign not provided 2025-09-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002330297 SCV002626723 likely benign Hereditary cancer-predisposing syndrome 2022-09-28 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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