ClinVar Miner

Submissions for variant NM_002745.5(MAPK1):c.952G>A (p.Asp318Asn)

dbSNP: rs2068716940
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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 RCV001261416 SCV001337685 pathogenic Heart, malformation of; Atypical behavior; Abnormal facial shape; Specific learning disability; Intellectual disability 2020-04-01 criteria provided, single submitter research
OMIM RCV001264764 SCV001443067 pathogenic Noonan syndrome 13 2020-11-09 no assertion criteria provided literature only

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