ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.5135G>T (p.Ser1712Ile) (rs201383498)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172019 SCV000054806 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Fulgent Genetics,Fulgent Genetics RCV000765147 SCV000896376 uncertain significance Familial hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Familial hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2018-10-31 criteria provided, single submitter clinical testing

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