ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.2041G>C (p.Gly681Arg)

gnomAD frequency: 0.02765  dbSNP: rs75915336
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Total submissions: 4
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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 RCV000037030 SCV000060686 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Gly681Arg in Exon 17 of MYH14: This variant is not expected to have clinical sig nificance because it has been identified in 9.5% (67/702) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs75915336).
GeneDx RCV001610323 SCV001833750 benign not provided 2018-08-10 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000037030 SCV001880142 benign not specified 2021-02-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001610323 SCV004564720 benign not provided 2023-11-06 criteria provided, single submitter clinical testing

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