ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.2763A>G (p.Lys921=)

gnomAD frequency: 0.00404  dbSNP: rs191788683
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Total submissions: 5
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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 RCV000155165 SCV000204851 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Lys921Lys in Exon 23 of MYH14: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 1.2% (42/3574) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS).
Eurofins Ntd Llc (ga) RCV000155165 SCV000338630 benign not specified 2016-04-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712344 SCV000842818 benign not provided 2018-05-25 criteria provided, single submitter clinical testing
GeneDx RCV000712344 SCV000974933 benign not provided 2018-05-03 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.
Invitae RCV000712344 SCV001025769 benign not provided 2024-01-18 criteria provided, single submitter clinical testing

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