ClinVar Miner

Submissions for variant NM_000192.3(TBX5):c.55G>T (p.Ala19Ser) (rs200461617)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000244681 SCV000319805 uncertain significance Cardiovascular phenotype 2015-06-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Insufficient or conflicting evidence
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000596892 SCV000702672 uncertain significance not provided 2017-07-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000292317 SCV000376513 likely benign Holt-Oram syndrome 2016-06-14 criteria provided, single submitter clinical testing

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