ClinVar Miner

Submissions for variant NM_020297.4(ABCC9):c.1165-6del

dbSNP: rs35857705
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000611204 SCV000051919 benign not specified 2019-08-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000406815 SCV000377543 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000354820 SCV000377545 likely benign Hypertrichotic osteochondrodysplasia Cantu type 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001537819 SCV000730636 benign not provided 2018-06-12 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000029273 SCV000901853 benign Cardiomyopathy 2017-06-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000860765 SCV001000910 benign Dilated cardiomyopathy 1O 2019-10-30 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000611204 SCV001740877 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001537819 SCV001799079 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000611204 SCV001930020 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000611204 SCV001968734 benign not specified no assertion criteria provided clinical testing
Institute of Human Genetics, University of Wuerzburg RCV004595888 SCV005088646 not provided Hypertrophic cardiomyopathy 2 no assertion provided clinical testing

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