ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.2290A>G (p.Lys764Glu) (rs77208665)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145296 SCV000192373 uncertain significance Seckel syndrome 1 2013-11-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000223960 SCV000281656 likely benign not provided 2016-01-20 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000223960 SCV001001187 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000223960 SCV001154078 uncertain significance not provided 2018-10-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000145296 SCV001312159 benign Seckel syndrome 1 2017-04-27 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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