ClinVar Miner

Submissions for variant NM_015466.4(PTPN23):c.3545G>A (p.Arg1182Gln)

gnomAD frequency: 0.00113  dbSNP: rs148987427
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001816350 SCV002062464 uncertain significance not provided 2022-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001816350 SCV002361185 benign not provided 2024-01-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001816350 SCV005261321 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003948740 SCV004760697 likely benign PTPN23-related disorder 2020-11-06 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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