ClinVar Miner

Submissions for variant NM_000143.4(FH):c.1237-9_1237-8insCTCTCT

dbSNP: rs1553340717
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000399875 SCV000356667 uncertain significance Hereditary leiomyomatosis and renal cell cancer 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000399875 SCV000356668 uncertain significance Hereditary leiomyomatosis and renal cell cancer 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000358740 SCV000356669 uncertain significance Fumarase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002522124 SCV002328401 likely benign not provided 2023-12-22 criteria provided, single submitter clinical testing

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