Submissions for variant NM_000063.6(C2):c.954G>C (p.Glu318Asp)

gnomAD frequency: 0.03307  dbSNP: rs9332739

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000012913	SCV000461949	likely benign	Age related macular degeneration 14	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000304426	SCV000461950	likely benign	Complement component 2 deficiency	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000454375	SCV000538519	benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: MAF
Mendelics	RCV000304426	SCV001137072	benign	Complement component 2 deficiency	2019-05-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001516299	SCV001724564	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001516299	SCV001882547	benign	not provided	2020-07-20	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 9670930, 22610944, 25525159, 32113979, 16936732, 16518403)
Fulgent Genetics, Fulgent Genetics	RCV002496332	SCV002806298	likely benign	Complement component 2 deficiency; Age related macular degeneration 14	2022-04-09	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001516299	SCV005225529	likely benign	not provided		criteria provided, single submitter	not provided
OMIM	RCV000012913	SCV000033154	pathogenic	Age related macular degeneration 14	2006-09-01	no assertion criteria provided	literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000454375	SCV001739738	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000454375	SCV001928698	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000454375	SCV001957275	benign	not specified		no assertion criteria provided	clinical testing