ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.4960-9G>A (rs557113705)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000156370 SCV000206088 benign not specified 2015-07-23 criteria provided, single submitter clinical testing c.4960-9G>A in intron 33 of MYH6: This variant is not expected to have clinical significance because it has been identified in 1.2% (195/16476) of South Asian c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs557113705).
Illumina Clinical Services Laboratory,Illumina RCV000405615 SCV000385549 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285001 SCV000385550 uncertain significance Atrial septal defect 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342496 SCV000385551 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770429 SCV000901872 likely benign Cardiomyopathy 2016-08-26 criteria provided, single submitter clinical testing
Invitae RCV000864396 SCV001005190 benign not provided 2018-08-07 criteria provided, single submitter clinical testing

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