ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.5083G>C (p.Gly1695Arg)

dbSNP: rs199915414
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Total submissions: 6
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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 RCV000151203 SCV000199034 benign not specified 2018-09-17 criteria provided, single submitter clinical testing The Gly1695Arg variant in MYH14 is classified as benign because it has been iden tified in 0.2% (49/23552) of African chromosomes by gnomAD (http://gnomad.broadi nstitute.org). ACMG/AMP Criteria applied: BA1.
Invitae RCV000901826 SCV001046215 likely benign not provided 2023-11-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000901826 SCV004140527 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing MYH14: BP4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000901826 SCV001798720 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000901826 SCV001925821 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000901826 SCV002038326 likely benign not provided no assertion criteria provided clinical testing

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