ClinVar Miner

Submissions for variant NM_002835.4(PTPN12):c.553-4G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003885671 SCV004699361 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing PTPN12: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003929383 SCV004739491 benign PTPN12-related disorder 2019-05-13 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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