ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.2464G>A (p.Ala822Thr) (rs138419275)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000647085 SCV000768872 likely benign Familial hypertrophic cardiomyopathy 14 2017-10-30 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155804 SCV000205515 likely benign not specified 2013-09-06 criteria provided, single submitter clinical testing Ala822Thr in exon 21 of MYH6: This variant is not expected to have clinical sign ificance because it has been identified in 1.7% (3/178) of Japanese chromosomes from a broad population by the 1000 Genomes Project (dbSNP rs138419275). Ala822 Thr in exon 21 of MYH6 (rs138419275; allele frequency = 1.7%, 3/178)

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