ClinVar Miner

Submissions for variant NM_004958.4(MTOR):c.4448G>T (p.Cys1483Phe)

dbSNP: rs786205165
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224544 SCV000280983 pathogenic not provided 2014-08-26 criteria provided, single submitter clinical testing
OMIM RCV000170355 SCV000222764 pathogenic Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 2016-09-13 no assertion criteria provided literature only

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