ClinVar Miner

Submissions for variant NM_005412.6(SHMT2):c.1495C>G (p.Pro499Ala)

dbSNP: rs2037465152
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) RCV001270311 SCV003920816 likely pathogenic Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities 2023-04-27 criteria provided, single submitter research
OMIM RCV001270311 SCV001450524 pathogenic Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities 2020-12-11 no assertion criteria provided literature only

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