ClinVar Miner

Submissions for variant NM_004958.4(MTOR):c.743C>T (p.Thr248Ile)

gnomAD frequency: 0.00005  dbSNP: rs377679898
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714714 SCV000845440 uncertain significance Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 2018-08-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001062728 SCV001227545 benign not provided 2024-11-28 criteria provided, single submitter clinical testing

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