ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2805G>C (p.Thr935=) (rs55934812)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000122836 SCV000166094 benign Ataxia-telangiectasia syndrome 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000211989 SCV000167075 benign not specified 2013-10-15 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 RCV000123732 SCV000212981 likely benign Hereditary cancer-predisposing syndrome 2014-08-19 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)
Color RCV000123732 SCV000537452 likely benign Hereditary cancer-predisposing syndrome 2015-04-27 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000211989 SCV000694235 likely benign not specified 2019-09-03 criteria provided, single submitter clinical testing
Counsyl RCV000122836 SCV000792119 likely benign Ataxia-telangiectasia syndrome 2017-06-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000586912 SCV000805527 likely benign not provided 2017-04-03 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000586912 SCV001143102 benign not provided 2018-09-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000122836 SCV001263807 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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