ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.5400C>T (p.Asp1800=)

gnomAD frequency: 0.00141  dbSNP: rs144329079
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Total submissions: 9
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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 RCV000037531 SCV000061189 benign not specified 2012-02-07 criteria provided, single submitter clinical testing Benign based on high population frequency (17/3755 chromosomes).
Eurofins Ntd Llc (ga) RCV000724395 SCV000229825 uncertain significance not provided 2014-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000724395 SCV000534032 likely benign not provided 2020-12-15 criteria provided, single submitter clinical testing
Invitae RCV001087566 SCV000557930 benign Hypertrophic cardiomyopathy 14 2023-11-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000724395 SCV004699084 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing MYH6: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004534791 SCV004753192 benign MYH6-related disorder 2019-06-07 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center RCV000037531 SCV001922277 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000724395 SCV001927748 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000724395 SCV001974360 likely benign not provided no assertion criteria provided clinical testing

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