ClinVar Miner

Submissions for variant NM_000091.4(COL4A3):c.71C>G (p.Ala24Gly) (rs184704920)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000591094 SCV000704996 benign not specified 2017-01-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000591094 SCV000966277 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Ala24Gly in exon 1 of COL4A3: This variant is not expected to have clinical si gnificance because it has been identified in 2.19% (29/1322) of African chromoso mes by the 1000 Genomes Project (Phase 3; dbSNP rs184704920).
Invitae RCV000888221 SCV001031839 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000888221 SCV001143227 benign not provided 2019-02-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001143025 SCV001303522 benign Alport syndrome 2017-09-18 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

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