ClinVar Miner

Submissions for variant NM_172351.3(CD46):c.293C>T (p.Thr98Ile)

gnomAD frequency: 0.00004  dbSNP: rs116800126
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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 RCV001099810 SCV001256295 uncertain significance Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly 2017-04-30 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001488484 SCV001693003 likely benign not provided 2023-11-08 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001488484 SCV004224776 uncertain significance not provided 2023-05-10 criteria provided, single submitter clinical testing BP4

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