ClinVar Miner

Submissions for variant NM_000143.4(FH):c.*92G>T

gnomAD frequency: 0.00016  dbSNP: rs202167168
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000361516 SCV000356652 uncertain significance Fumarase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000321931 SCV000356653 uncertain significance Hereditary leiomyomatosis and renal cell cancer 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000321931 SCV000356654 uncertain significance Hereditary leiomyomatosis and renal cell cancer 2016-06-14 criteria provided, single submitter clinical testing

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