ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.2367A>T (p.Gly789=)

dbSNP: rs56247709
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000317064 SCV000428102 likely benign 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Athena Diagnostics RCV000516706 SCV000612966 benign not specified 2016-09-08 criteria provided, single submitter clinical testing
GeneDx RCV000954392 SCV000717818 benign not provided 2018-08-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17396119, 20029656)
Eurofins Ntd Llc (ga) RCV000516706 SCV000855998 benign not specified 2017-08-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000516706 SCV000967072 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Gly789Gly in exon 28 of COL4A4: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 0.93% (622/66730) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs56247709).
Labcorp Genetics (formerly Invitae), Labcorp RCV000954392 SCV001101022 benign not provided 2025-01-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001526741 SCV001737206 benign Autosomal recessive Alport syndrome 2021-05-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000954392 SCV002064014 benign not provided 2024-12-01 criteria provided, single submitter clinical testing COL4A4: BP4, BP7, BS1, BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294293 SCV002587322 benign Focal segmental glomerulosclerosis 2021-11-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000954392 SCV005258979 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000317064 SCV002078899 benign Alport syndrome 2019-11-01 no assertion criteria provided clinical testing

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