ClinVar Miner

Submissions for variant NM_000204.4(CFI):c.782G>A (p.Gly261Asp) (rs112534524)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000055784 SCV000446883 likely benign Atypical hemolytic-uremic syndrome 3 2017-04-27 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000892174 SCV001036036 likely benign not provided 2020-10-27 criteria provided, single submitter clinical testing
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001171354 SCV001328301 likely benign Chronic kidney disease 2020-05-28 criteria provided, single submitter research PP3, BP6, BS1
GeneReviews RCV000055784 SCV000086750 pathologic Atypical hemolytic-uremic syndrome 3 2013-08-08 no assertion criteria provided curation Converted during submission to Pathogenic.

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