ClinVar Miner

Submissions for variant NM_002745.5(MAPK1):c.221T>A (p.Ile74Asn)

dbSNP: rs2069154121
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital RCV001261413 SCV001337682 pathogenic Short stature; Atypical behavior; Abnormal facial shape; Specific learning disability; Microcephaly; Intellectual disability 2020-04-01 criteria provided, single submitter research
OMIM RCV001264762 SCV001443065 pathogenic Noonan syndrome 13 2020-11-09 no assertion criteria provided literature only

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