ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3403-16_3403-15insA

gnomAD frequency: 0.00016  dbSNP: rs569564716
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670064 SCV000794877 likely benign Ataxia-telangiectasia syndrome 2017-10-18 criteria provided, single submitter clinical testing
GeneDx RCV001577656 SCV001805072 likely benign not provided 2019-08-16 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003321713 SCV004027203 benign not specified 2023-08-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004547841 SCV004755178 benign ATM-related disorder 2019-03-27 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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