ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1074C>T (p.Ala358=) (rs45459491)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000030115 SCV000052770 benign Cardiomyopathy 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038718 SCV000062396 benign not specified 2008-06-24 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000038718 SCV000311690 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000457081 SCV000557544 benign Myofibrillar myopathy, ZASP-related 2016-04-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618888 SCV000735137 benign Cardiovascular phenotype 2015-07-15 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 RCV000712209 SCV000842647 benign not provided 2018-03-29 criteria provided, single submitter clinical testing

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