ClinVar Miner

Submissions for variant NM_004958.4(MTOR):c.1500T>C (p.Asp500=)

gnomAD frequency: 0.00001  dbSNP: rs533405069
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001509639 SCV001716465 benign not provided 2023-11-27 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001509639 SCV001926420 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001509639 SCV001969294 likely benign not provided no assertion criteria provided clinical testing

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