ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.4960-9G>A

gnomAD frequency: 0.00001  dbSNP: rs557113705
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham 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).
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770429 SCV000901872 benign Cardiomyopathy 2021-04-29 criteria provided, single submitter clinical testing
Invitae RCV000864396 SCV001005190 benign Hypertrophic cardiomyopathy 14 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001528858 SCV001840045 benign not provided 2018-12-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498766 SCV002807402 benign Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2021-07-14 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528858 SCV001741300 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000156370 SCV001921544 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001528858 SCV001970940 likely benign not provided no assertion criteria provided clinical testing

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