ClinVar Miner

Submissions for variant NC_000001.11:g.(?_241497557)_(241519785_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000457660 SCV000563824 pathogenic Fumarase deficiency 2017-01-12 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the FH gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Loss of function variants in FH are known to be pathogenic. A deletion of the entire gene has been reported in patients with hereditary leiomyomatosis and renal cancer, multiple cutaneous and uterine leiomyomatosis, reduced FH enzyme activity (PMID: 12761039, 21398687, 11865300), and fumarase deficiency (PMID:22069215). For these reasons, this variant has been classified as Pathogenic.

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