ClinVar Miner

Submissions for variant NM_006059.4(LAMC3):c.2891-8C>T

gnomAD frequency: 0.00339  dbSNP: rs199535979
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724460 SCV000226637 uncertain significance not provided 2014-12-08 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000193315 SCV000247824 likely benign not specified 2015-05-15 criteria provided, single submitter clinical testing
GeneDx RCV000724460 SCV000513456 likely benign not provided 2021-01-11 criteria provided, single submitter clinical testing
Invitae RCV000724460 SCV001055544 likely benign not provided 2024-01-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000724460 SCV001155768 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing LAMC3: BP4, BS2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV000193315 SCV001984355 benign not specified 2020-01-06 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000724460 SCV001808744 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000193315 SCV001967909 benign not specified no assertion criteria provided clinical testing

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