ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5355T>G (p.Pro1785=) (rs1025083720)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000628315 SCV000749211 likely benign Ataxia-telangiectasia syndrome 2017-10-05 criteria provided, single submitter clinical testing
Color RCV000776744 SCV000912387 likely benign Hereditary cancer-predisposing syndrome 2017-11-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000776744 SCV001185916 likely benign Hereditary cancer-predisposing syndrome 2019-05-23 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign

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