ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.50A>G (p.Lys17Arg)

gnomAD frequency: 0.00341  dbSNP: rs114969026
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000904082 SCV000570551 benign not provided 2019-08-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000480643 SCV000966410 likely benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Lys17Arg in exon 2 of COL4A4: This variant is not expected to have clinical si gnificance because it has been identified in 1.13% (111/9798) of African chromos omes by the Exome Aggregation Consortium (ExAC,; dbSNP rs114969026).
Invitae RCV000904082 SCV001048583 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000904082 SCV001143242 benign not provided 2019-06-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001138181 SCV001298214 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.
Natera, Inc. RCV001138181 SCV001457795 benign Alport syndrome 2019-10-28 no assertion criteria provided clinical testing

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