ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2542G>T (p.Glu848Ter)

dbSNP: rs879254046
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409865 SCV000486193 likely pathogenic Ataxia-telangiectasia syndrome 2016-04-13 criteria provided, single submitter clinical testing
Laboratory for Genotyping Development, RIKEN RCV003168591 SCV002758085 pathogenic Gastric cancer 2021-07-01 no assertion criteria provided research

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