ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5005+7_5005+8delTA (rs587780626)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000159619 SCV000682238 likely benign Hereditary cancer-predisposing syndrome 2015-04-15 criteria provided, single submitter clinical testing
GeneDx RCV000159619 SCV000209604 benign Hereditary cancer-predisposing syndrome 2014-10-01 criteria provided, single submitter clinical testing The variant is found in BR-OV-HEREDIC,HEREDICANCER panel(s).
Genetic Services Laboratory, University of Chicago RCV000501211 SCV000593484 likely benign not specified 2016-06-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000122857 SCV000367058 uncertain significance Ataxia-telangiectasia syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000501211 SCV000916547 likely benign not specified 2017-10-12 criteria provided, single submitter clinical testing Variant summary: The c.5005+7_5005+8delTA in ATM gene is an intronic change that involves a non-conserved nucleotide. 4/5 programs in Alamut indicate this variant to not have a major impact on splicing, however no functional studies supporting these predictions were published at the time of evaluation. The variant is present in the control population datasets of ExAC and gnomAD at frequency of 0.0002342 (28/ 119546 and 68/276222 chrs tested, respectively), predominantly in individuals of South Asian descent (0.0013; 19/16344 and 40/ 30774, chrs respectively, including 1 homozygous occurrence). The observed individual frequencies exceed the maximum expected allele frequency for a pathogenic variant of 0.001, suggesting the variant to be a likely benign ethnic polymorphism. The variant of interest has not, to our knowledge, been reported in the literature, but is cited as Benign/Likely Benign by several reputable databases/clinical laboratories. Lastly, the variant co-occurred with a known pathogenic variation c.1100delC in CHEK2 in an internal sample. Taking together the variant was classified as Likely Benign.
Invitae RCV000122857 SCV000166115 likely benign Ataxia-telangiectasia syndrome 2017-12-27 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000159619 SCV000787869 likely benign Hereditary cancer-predisposing syndrome 2017-06-21 no assertion criteria provided clinical testing

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