ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.4082-8C>T

gnomAD frequency: 0.00420  dbSNP: rs139571413
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000274549 SCV000428075 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.
GeneDx RCV000887341 SCV000717816 benign not provided 2019-09-19 criteria provided, single submitter clinical testing
Invitae RCV000887341 SCV001030894 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000887341 SCV004151530 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing COL4A4: BP4, BS2
Natera, Inc. RCV000274549 SCV002078865 benign Alport syndrome 2019-10-21 no assertion criteria provided clinical testing

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