ClinVar Miner

Submissions for variant NM_002838.5(PTPRC):c.3208-8T>C

gnomAD frequency: 0.00003  dbSNP: rs201210714
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000893506 SCV001037446 likely benign Immunodeficiency 104 2023-11-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975651 SCV004787654 likely benign PTPRC-related disorder 2019-03-12 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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