ClinVar Miner

Submissions for variant NM_181784.3(SPRED2):c.299T>C (p.Leu100Pro)

dbSNP: rs2104216988
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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 RCV001720327 SCV001805865 pathogenic Noonan syndrome 2021-08-01 criteria provided, single submitter research
OMIM RCV001836618 SCV002097230 pathogenic Noonan syndrome 14 2022-02-15 no assertion criteria provided literature only

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