Submissions for variant NM_001845.6(COL4A1):c.3713G>A (p.Arg1238His)

gnomAD frequency: 0.00001  dbSNP: rs146598127

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002164152	SCV002478441	likely benign	not provided	2023-11-07	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002500362	SCV002809053	likely benign	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies; Hemorrhage, intracerebral, susceptibility to; Retinal arterial tortuosity; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	2022-02-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004047058	SCV004929930	likely benign	Inborn genetic diseases	2023-10-04	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.
CeGaT Center for Human Genetics Tuebingen	RCV002164152	SCV005093381	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	COL4A1: BS1