ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6437G>C (p.Ser2146Thr) (rs56815840)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000120154 SCV000167098 benign not specified 2013-10-11 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 RCV000131611 SCV000186627 benign Hereditary cancer-predisposing syndrome 2014-11-21 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001080465 SCV000262364 benign Ataxia-telangiectasia syndrome 2019-12-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000120154 SCV000593488 benign not specified 2018-01-25 criteria provided, single submitter clinical testing
Color RCV000131611 SCV000682338 benign Hereditary cancer-predisposing syndrome 2014-12-16 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000120154 SCV000805599 benign not specified 2016-10-03 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710676 SCV000840952 benign not provided 2018-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000710676 SCV000885039 benign not provided 2017-08-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001080465 SCV001264709 likely benign Ataxia-telangiectasia syndrome 2017-04-28 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ITMI RCV000120154 SCV000084295 not provided not specified 2013-09-19 no assertion provided reference population
Natera, Inc. RCV001080465 SCV001457416 benign Ataxia-telangiectasia syndrome 2020-09-16 no assertion criteria provided clinical testing

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