ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.609G>A (p.Ser203=) (rs45531131)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038763 SCV000062441 benign not specified 2008-06-10 criteria provided, single submitter clinical testing
Invitae RCV000227191 SCV000289627 benign Myofibrillar myopathy, ZASP-related 2018-01-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621639 SCV000735946 benign Cardiovascular phenotype 2015-09-09 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
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770146 SCV000901572 benign Cardiomyopathy 2016-04-11 criteria provided, single submitter clinical testing

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