ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.1020C>A (p.Ala340=) (rs546927781)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000122815 SCV000166072 likely benign Ataxia-telangiectasia syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000163834 SCV000214420 likely benign Hereditary cancer-predisposing syndrome 2015-01-08 criteria provided, single submitter clinical testing
GeneDx RCV000437511 SCV000521749 likely benign not specified 2017-09-25 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.
Color RCV000163834 SCV000681945 likely benign Hereditary cancer-predisposing syndrome 2015-08-13 criteria provided, single submitter clinical testing
Counsyl RCV000122815 SCV000789980 likely benign Ataxia-telangiectasia syndrome 2017-02-28 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000437511 SCV000918529 likely benign not specified 2019-09-12 criteria provided, single submitter clinical testing

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