ClinVar Miner

Submissions for variant NM_015466.4(PTPN23):c.2568_2594del (p.Val857_Pro865del)

dbSNP: rs779096974
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Regeneron Genetics Center, Regeneron RCV000853206 SCV000927113 likely pathogenic Global developmental delay; Brain atrophy 2019-02-15 no assertion criteria provided research Identified in cohort of patients with neurodevelopmental disorder accompanied by structural brain abnormalities
OMIM RCV001171372 SCV001334063 pathogenic Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity 2020-05-28 no assertion criteria provided literature only

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