Submissions for variant NM_030787.4(CFHR5):c.508G>A (p.Val170Met)

gnomAD frequency: 0.00019  dbSNP: rs201073457

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001101406	SCV001258010	benign	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Invitae	RCV002069700	SCV002431955	benign	not provided	2022-07-09	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002497508	SCV002805495	likely benign	CFHR5 deficiency	2021-09-13	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002497508	SCV004177496	likely benign	CFHR5 deficiency	2023-04-11	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV002069700	SCV004224747	uncertain significance	not provided	2022-08-09	criteria provided, single submitter	clinical testing	PS3_supporting