ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.4365G>T (p.Leu1455=) (rs779591168)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000252419 SCV000320199 likely benign Cardiovascular phenotype 2015-08-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,Rarity in general population databases (dbsnp, esp, 1000 genomes),Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Invitae RCV000470760 SCV000557875 likely benign Familial hypertrophic cardiomyopathy 14 2016-12-05 criteria provided, single submitter clinical testing

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