ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.115-316G>A

gnomAD frequency: 0.00015  dbSNP: rs397516491
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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 RCV000036635 SCV000060290 likely benign not specified 2011-11-09 criteria provided, single submitter clinical testing Glu40Glu in exon 1 of TPM1: This variant does not change an amino acid and does not affect the splice consensus sequence. This makes a disease causing role very unlikely.
Color Diagnostics, LLC DBA Color Health RCV000777962 SCV000914063 likely benign Cardiomyopathy 2018-09-24 criteria provided, single submitter clinical testing
GeneDx RCV001642558 SCV001860162 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001642558 SCV002063432 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing TPM1: BP4, BP7, BS1
PreventionGenetics, part of Exact Sciences RCV003934900 SCV004749489 likely benign TPM1-related condition 2019-06-21 criteria provided, single submitter clinical testing This variant is classified as likely 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 RCV000036635 SCV001923365 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001642558 SCV001931419 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001642558 SCV001957760 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001642558 SCV001971782 likely benign not provided no assertion criteria provided clinical testing

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