Submissions for variant NM_000091.5(COL4A3):c.4893C>T (p.Phe1631=)

gnomAD frequency: 0.00344  dbSNP: rs183218622

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000245793	SCV000302082	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000277800	SCV000428198	uncertain significance	Alport syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV000710827	SCV000726299	benign	not provided	2019-03-19	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000710827	SCV000841132	benign	not provided	2017-09-28	criteria provided, single submitter	clinical testing
Invitae	RCV000710827	SCV001092836	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000710827	SCV003799617	benign	not provided	2023-10-09	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000710827	SCV004699187	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	COL4A3: BP4, BS2
Natera, Inc.	RCV000277800	SCV001462980	benign	Alport syndrome	2020-01-02	no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000710827	SCV001956772	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000710827	SCV001966438	likely benign	not provided		no assertion criteria provided	clinical testing