ClinVar Miner

Submissions for variant NM_002838.5(PTPRC):c.3687C>T (p.Tyr1229=)

gnomAD frequency: 0.00051  dbSNP: rs145983642
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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 RCV001461219 SCV001665107 likely benign Immunodeficiency 104 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003416350 SCV004125225 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing PTPRC: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003938823 SCV004760708 likely benign PTPRC-related disorder 2024-01-15 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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