ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6807G>A (p.Gln2269=) (rs587780638)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000213885 SCV000278570 uncertain significance Hereditary cancer-predisposing syndrome 2016-07-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000122879 SCV000166137 uncertain significance Ataxia-telangiectasia syndrome 2014-06-11 no assertion criteria provided clinical testing The interpretation for this sequence variant was made by Invitae based on the ACMG guidelines.

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