ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3279C>T (p.Gly1093=) (rs36212064)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724143 SCV000229296 uncertain significance not provided 2014-09-01 criteria provided, single submitter clinical testing
GeneDx RCV000724143 SCV000513761 likely benign not provided 2021-05-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31638414, 28679633)
Ambry Genetics RCV000619488 SCV000735498 likely benign Cardiovascular phenotype 2016-08-22 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001080718 SCV000749809 benign Hypertrophic cardiomyopathy 2020-10-09 criteria provided, single submitter clinical testing
Color Health, Inc RCV001186295 SCV001352676 likely benign Cardiomyopathy 2019-03-08 criteria provided, single submitter clinical testing

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