ClinVar Miner

Submissions for variant NM_019023.5(PRMT7):c.937C>T (p.His313Tyr)

dbSNP: rs2545019503
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV004515767 SCV005016478 likely pathogenic Short stature-brachydactyly-obesity-global developmental delay syndrome 2024-01-24 criteria provided, single submitter clinical testing

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