ClinVar Miner

Submissions for variant NM_002838.5(PTPRC):c.1116C>G (p.Leu372=)

gnomAD frequency: 0.00007  dbSNP: rs747910304
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001498391 SCV001703141 likely benign Immunodeficiency 104 2024-01-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003416366 SCV004125220 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing PTPRC: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003948458 SCV004770505 likely benign PTPRC-related disorder 2023-11-30 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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