ClinVar Miner

Submissions for variant NM_015466.4(PTPN23):c.2866CAGCCCCATCCT[1] (p.956QPHP[1])

dbSNP: rs760022693
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001195775 SCV001366195 uncertain significance Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity 2020-01-30 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: No criteria apply.
Labcorp Genetics (formerly Invitae), Labcorp RCV001452879 SCV001656556 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001452879 SCV002563767 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing PTPN23: BS2
Regeneron Genetics Center, Regeneron RCV000853203 SCV000927110 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

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