ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.630G>C (p.Trp210Cys) (rs137852763)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712327 SCV000842797 pathogenic not provided 2016-06-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV000009331 SCV001520878 pathogenic Ataxia-telangiectasia-like disorder 1 2020-01-17 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
OMIM RCV000009331 SCV000029549 pathogenic Ataxia-telangiectasia-like disorder 1 2005-01-15 no assertion criteria provided literature only
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000009331 SCV001133231 pathogenic Ataxia-telangiectasia-like disorder 1 2019-09-26 no assertion criteria provided clinical testing

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