ClinVar Miner

Submissions for variant NM_015466.4(PTPN23):c.2856GCCCCA[4] (p.954QP[3])

dbSNP: rs552397269
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002132891 SCV002436758 likely benign not provided 2025-01-19 criteria provided, single submitter clinical testing
GeneDx RCV002132891 SCV002569840 uncertain significance not provided 2023-04-07 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-frame insertion of 2 amino acids in a repeat region
Ambry Genetics RCV003061748 SCV003540801 likely benign Inborn genetic diseases 2022-11-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003913802 SCV004732171 likely benign PTPN23-related disorder 2019-05-07 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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