ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.1022G>C (p.Gly341Ala) (rs8099021)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000216131 SCV000269336 benign not specified 2014-11-26 criteria provided, single submitter clinical testing This is a RefSeq error. The reference base (c.1022G) is the minor allele. This a llele (G) has been identified in 28% (2372/8340) of European American chromosome s and 19% (769/4008) of African American chromosomes by the NHLBI Exome Sequenci ng Project (; dbSNP rs8099021) and thus meets c riteria to be classified as benign.
Ambry Genetics RCV000619229 SCV000739815 benign Cardiovascular phenotype 2012-07-11 criteria provided, single submitter clinical testing
GeneDx RCV000838120 SCV000979984 benign not provided 2018-06-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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