ClinVar Miner

Submissions for variant NM_012250.6(RRAS2):c.215A>T (p.Gln72Leu)

dbSNP: rs113954997
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Total submissions: 5
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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 RCV000852398 SCV000902252 pathogenic Noonan syndrome 2019-04-01 criteria provided, single submitter research this is a pathogenic variant associated with Noonan Syndrome
Baylor Genetics RCV000010054 SCV001522086 pathogenic Noonan syndrome 12 2020-05-28 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Revvity Omics, Revvity RCV000010054 SCV002019904 pathogenic Noonan syndrome 12 2020-07-07 criteria provided, single submitter clinical testing
OMIM RCV000010054 SCV000030275 pathogenic Noonan syndrome 12 1994-08-02 no assertion criteria provided literature only
OMIM RCV001072115 SCV001237453 pathogenic Neoplasm of ovary 1994-08-02 no assertion criteria provided literature only

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