Submissions for variant NM_139125.4(MASP1):c.863G>A (p.Arg288Gln)

gnomAD frequency: 0.00116  dbSNP: rs116001173

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000375373	SCV000338598	likely benign	not specified	2016-01-19	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000660404	SCV000782489	uncertain significance	3MC syndrome 1	2016-09-23	criteria provided, single submitter	clinical testing
GeneDx	RCV000951553	SCV001782861	likely benign	not provided	2020-12-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000660404	SCV002341283	benign	3MC syndrome 1	2023-06-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002519185	SCV003740496	likely benign	Inborn genetic diseases	2021-12-15	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences	RCV003930116	SCV004745313	likely benign	MASP1-related disorder	2023-04-25	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).