ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3994-121del

gnomAD frequency: 0.00643  dbSNP: rs56013141
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250791 SCV000301665 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000679116 SCV001766272 likely benign not provided 2018-06-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828125 SCV002081603 benign Ataxia-telangiectasia syndrome 2019-09-25 no assertion criteria provided clinical testing

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