ClinVar Miner

Submissions for variant NM_000143.4(FH):c.21C>T (p.Leu7=)

gnomAD frequency: 0.00003  dbSNP: rs1263147931
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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 RCV005056648 SCV001685188 likely benign not provided 2025-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002427219 SCV002729518 likely benign Hereditary cancer-predisposing syndrome 2020-05-04 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. RCV001274351 SCV001458393 likely benign Fumarase deficiency 2020-09-16 no assertion criteria provided clinical testing

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