ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6995T>C (p.Leu2332Pro) (rs4988111)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000120156 SCV000167054 benign not specified 2013-10-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000128891 SCV000172751 benign Hereditary cancer-predisposing syndrome 2014-11-25 criteria provided, single submitter clinical testing
Invitae RCV001080466 SCV000262433 benign Ataxia-telangiectasia syndrome 2019-12-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224405 SCV000281631 likely benign not provided 2016-02-11 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Color RCV000128891 SCV000682382 benign Hereditary cancer-predisposing syndrome 2014-11-12 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120156 SCV000703941 benign not specified 2016-12-01 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000120156 SCV000805611 benign not specified 2016-10-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001080466 SCV001260754 benign Ataxia-telangiectasia syndrome 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
ITMI RCV000120156 SCV000084297 not provided not specified 2013-09-19 no assertion provided reference population
True Health Diagnostics RCV000128891 SCV000805220 likely benign Hereditary cancer-predisposing syndrome 2018-06-18 no assertion criteria provided clinical testing

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