ClinVar Miner

Submissions for variant NM_012120.3(CD2AP):c.1898A>G (p.Lys633Arg)

gnomAD frequency: 0.00844  dbSNP: rs116754410
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000250382 SCV000311841 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000398184 SCV000463781 benign Focal segmental glomerulosclerosis 3, susceptibility to 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000973383 SCV001121140 benign not provided 2023-12-11 criteria provided, single submitter clinical testing
GeneDx RCV000973383 SCV002008580 likely benign not provided 2020-03-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26101835)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294168 SCV002587426 likely benign Focal segmental glomerulosclerosis 2018-10-01 criteria provided, single submitter clinical testing

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