Submissions for variant NM_015991.4(C1QA):c.67G>A (p.Glu23Lys)

gnomAD frequency: 0.00330  dbSNP: rs17887074

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000625107	SCV000743794	likely benign	C1Q deficiency	2014-10-09	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625107	SCV000745209	likely benign	C1Q deficiency	2016-07-25	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000885716	SCV001029181	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000885716	SCV004032568	likely benign	not provided	2024-12-01	criteria provided, single submitter	clinical testing	C1QA: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000885716	SCV005260713	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003983147	SCV004796526	benign	C1QA-related disorder	2019-09-09	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).