ClinVar Miner

Submissions for variant NM_004958.4(MTOR):c.5502_5519dup (p.Ala1835_Thr1840dup)

dbSNP: rs770515802
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001061504 SCV001226249 benign not provided 2023-11-27 criteria provided, single submitter clinical testing
GeneDx RCV001061504 SCV002770343 uncertain significance not provided 2022-06-20 criteria provided, single submitter clinical testing In-frame insertion of 6 amino acids in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001061504 SCV002034250 likely benign not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001061504 SCV002035039 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001061504 SCV002036924 likely benign not provided no assertion criteria provided clinical testing

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