ClinVar Miner

Submissions for variant NM_006306.3(SMC1A):c.699G>A (p.Val233=) (rs145319852)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715607 SCV000846436 benign History of neurodevelopmental disorder 2016-04-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000153977 SCV000615335 benign not specified 2016-10-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153977 SCV000203602 benign not specified 2014-05-06 criteria provided, single submitter clinical testing
Invitae RCV000545929 SCV000638000 benign Congenital muscular hypertrophy-cerebral syndrome 2017-12-10 criteria provided, single submitter clinical testing
PreventionGenetics RCV000153977 SCV000311451 benign not specified criteria provided, single submitter clinical testing

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