ClinVar Miner

Submissions for variant NM_030787.4(CFHR5):c.330A>C (p.Val110=)

gnomAD frequency: 0.01447  dbSNP: rs61745675
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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 RCV000262253 SCV000352554 benign CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000960100 SCV001107048 benign not provided 2024-01-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480067 SCV002796762 likely benign CFHR5 deficiency 2021-09-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002480067 SCV004177487 benign CFHR5 deficiency 2023-04-11 criteria provided, single submitter clinical testing

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