Submissions for variant NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser)

gnomAD frequency: 0.11020  dbSNP: rs2272946

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000254318	SCV000304528	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000254318	SCV000340577	benign	not specified	2016-04-07	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000254318	SCV000713737	benign	not specified	2017-11-22	criteria provided, single submitter	clinical testing	p.Ile444Ser in exon 20 of COL4A5: This variant is not expected to have clinical significance because it has been identified in 34% (6123/17969) of African chrom osomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute. org; dbSNP rs2272946). ACMG/AMP Criteria applied: BA1.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000021277	SCV000883651	benign	X-linked Alport syndrome	2023-11-03	criteria provided, single submitter	clinical testing
Invitae	RCV001519072	SCV001727877	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001519072	SCV001946080	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 8648925, 27884173, 11223851, 10561141, 8940267, 30245029)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000254318	SCV002050899	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002293987	SCV002587279	benign	Focal segmental glomerulosclerosis	2022-08-16	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000021277	SCV002806080	benign	X-linked Alport syndrome	2021-10-21	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000021277	SCV001458770	benign	X-linked Alport syndrome	2020-09-16	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000254318	SCV001931867	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000254318	SCV001959291	benign	not specified		no assertion criteria provided	clinical testing