ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3979-8C>T

dbSNP: rs555976716
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176932 SCV000228709 benign not specified 2015-05-19 criteria provided, single submitter clinical testing
GeneDx RCV000176932 SCV000532225 benign not specified 2016-10-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000473130 SCV000557884 benign Hypertrophic cardiomyopathy 14 2024-01-26 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769404 SCV000900797 benign Cardiomyopathy 2016-04-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503679 SCV002808424 likely benign Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2021-09-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001572927 SCV003800271 benign not provided 2023-09-28 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572927 SCV001798039 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000176932 SCV001922947 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000176932 SCV001967053 benign not specified no assertion criteria provided clinical testing

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