ClinVar Miner

Submissions for variant NM_019023.5(PRMT7):c.347T>A (p.Ile116Asn)

dbSNP: rs2151558358
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001813607 SCV002060415 likely pathogenic Short stature-brachydactyly-obesity-global developmental delay syndrome no assertion criteria provided clinical testing

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