ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7788+8G>T (rs112775908)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000115256 SCV000149165 benign not specified 2015-04-13 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.
Invitae RCV000119166 SCV000153893 benign Ataxia-telangiectasia syndrome 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000115256 SCV000301684 likely benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000115256 SCV000602565 likely benign not specified 2017-01-03 criteria provided, single submitter clinical testing
Color RCV000579980 SCV000682434 likely benign Hereditary cancer-predisposing syndrome 2015-01-09 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589845 SCV000694360 benign not provided 2017-02-09 criteria provided, single submitter clinical testing
Counsyl RCV000119166 SCV000792935 likely benign Ataxia-telangiectasia syndrome 2017-07-24 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000589845 SCV000805617 likely benign not provided 2016-06-07 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000589845 SCV000840964 benign not provided 2018-08-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000115256 SCV000854937 likely benign not specified 2018-05-29 criteria provided, single submitter clinical testing
Mendelics RCV000119166 SCV001138567 likely benign Ataxia-telangiectasia syndrome 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000589845 SCV001148446 uncertain significance not provided 2019-01-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000119166 SCV001261063 uncertain significance 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
True Health Diagnostics RCV000579980 SCV000886666 likely benign Hereditary cancer-predisposing syndrome 2018-08-07 no assertion criteria provided clinical testing

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