ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.1112-11T>C

gnomAD frequency: 0.00097  dbSNP: rs59555146
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Total submissions: 2
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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 RCV000218460 SCV000269337 benign not specified 2014-11-24 criteria provided, single submitter clinical testing 1112-11T>C in intron 7 of MYOM1: This variant is not expected to have clinical s ignificance because it has been identified in 7.2% (14/194) of Han Chinese chrom osomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm. nih.gov/projects/SNP; dbSNP rs59555146).
Invitae RCV002054382 SCV002403325 benign Hypertrophic cardiomyopathy 2024-01-26 criteria provided, single submitter clinical testing

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