ClinVar Miner

Submissions for variant NM_000143.4(FH):c.1237-50TC[22]

dbSNP: rs144131869
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000398241 SCV000356682 uncertain significance Hereditary leiomyomatosis and renal cell cancer 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000343423 SCV000356683 uncertain significance Fumarase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000398241 SCV000356684 uncertain significance Hereditary leiomyomatosis and renal cell cancer 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001711882 SCV001941517 benign not provided 2019-08-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820852 SCV002065597 uncertain significance not specified 2017-07-12 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV001820852 SCV002552129 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001711882 SCV004273569 likely benign not provided 2024-01-08 criteria provided, single submitter clinical testing

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