ClinVar Miner

Submissions for variant NM_004958.4(MTOR):c.7238G>T (p.Ser2413Ile)

dbSNP: rs1553171141
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623806 SCV000740829 pathogenic Inborn genetic diseases 2016-05-09 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333085 SCV004041332 pathogenic Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 2023-04-26 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001260511 SCV001437532 likely pathogenic CEBALID syndrome 2020-09-01 no assertion criteria provided clinical testing

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