ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.800-5C>T

gnomAD frequency: 0.00006  dbSNP: rs727505228
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Total submissions: 5
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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 RCV000156729 SCV000206450 likely benign not specified 2014-08-07 criteria provided, single submitter clinical testing 800-5C>T in intron 9 of MYH6: This variant is not expected to have clinical sign ificance because a C>T change at this position does not diverge from the splice consensus sequence and is therefore unlikely to impact splicing.
Invitae RCV001458578 SCV001662402 likely benign Hypertrophic cardiomyopathy 14 2023-11-03 criteria provided, single submitter clinical testing
GeneDx RCV000457322 SCV001827783 likely benign not provided 2018-10-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415677 SCV002678677 likely benign Cardiovascular phenotype 2020-01-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002492600 SCV002803613 likely benign Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2021-07-16 criteria provided, single submitter clinical testing

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