ClinVar Miner

Submissions for variant NM_000092.4(COL4A4):c.5016A>G (p.Glu1672=) (rs34761049)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000250750 SCV000302126 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375325 SCV000428060 likely benign Alport syndrome 2018-01-12 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 Inc RCV000250750 SCV000612974 benign not specified 2016-10-18 criteria provided, single submitter clinical testing
GeneDx RCV000923760 SCV000725921 benign not provided 2019-12-24 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000250750 SCV000967063 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Glu1672Glu in exon 48 of COL4A4: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wi thin the splice consensus sequence, and has been identified in 1.00% (98/9800) o f African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs34761049).
Invitae RCV000923760 SCV001069249 benign not provided 2020-11-19 criteria provided, single submitter clinical testing

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