ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4206G>A (p.Glu1402=) (rs1567699651)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756383 SCV000884178 likely benign not provided 2018-05-08 criteria provided, single submitter clinical testing The MYH11 c.4206G>A; p.Glu1402Glu variant, to our knowledge, is not reported in the medical literature or in gene-specific databases, and is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database). This is a synonymous variant at a weakly conserved nucleotide and computational algorithms (Alamut v.2.11) predict no impact on splicing. Based on available information, this variant is considered likely benign.

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