ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1931G>A (p.Arg644His) (rs368386019)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079490 SCV000291557 likely benign Charcot-Marie-Tooth disease, type 2 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000245708 SCV000320352 uncertain significance Cardiovascular phenotype 2018-02-28 criteria provided, single submitter clinical testing Insufficient evidence
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725647 SCV000338355 uncertain significance not provided 2015-12-11 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000182377 SCV000614027 uncertain significance not specified 2017-03-30 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769735 SCV000901157 uncertain significance Cardiomyopathy 2017-08-04 criteria provided, single submitter clinical testing
Color RCV000769735 SCV000913870 likely benign Cardiomyopathy 2018-10-30 criteria provided, single submitter clinical testing
CSER _CC_NCGL, University of Washington RCV000148599 SCV000190314 likely benign Congenital muscular dystrophy 2014-06-01 no assertion criteria provided research

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