ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.1176C>G (p.Gly392=) (rs1800727)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130991 SCV000185914 benign Hereditary cancer-predisposing syndrome 2014-11-25 criteria provided, single submitter clinical testing
Color RCV000130991 SCV000681955 benign Hereditary cancer-predisposing syndrome 2015-04-02 criteria provided, single submitter clinical testing
Counsyl RCV000386773 SCV000797300 benign Ataxia-telangiectasia syndrome 2018-01-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000386773 SCV000367026 likely benign Ataxia-telangiectasia syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000386773 SCV000558356 benign Ataxia-telangiectasia syndrome 2018-01-12 criteria provided, single submitter clinical testing
PreventionGenetics RCV000247410 SCV000301650 benign not specified criteria provided, single submitter clinical testing
True Health Diagnostics RCV000130991 SCV000787841 likely benign Hereditary cancer-predisposing syndrome 2018-02-23 no assertion criteria provided clinical testing

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