ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.5268C>T (p.Ala1756=)

dbSNP: rs919018072
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Total submissions: 1
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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 RCV000825192 SCV000966468 likely benign not specified 2018-08-22 criteria provided, single submitter clinical testing The p.Ala1756Ala variant in MYH14 is classified as likely benign because it does not alter an amino acid residue, it is not located within the splice consensus sequence, and splice prediction algorithms do not predict a newly created splice site. ACMG/AMP Criteria applied: BP4, BP7, PM2.

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