ClinVar Miner

Submissions for variant NM_002838.5(PTPRC):c.492C>T (p.Ser164=)

gnomAD frequency: 0.00001  dbSNP: rs1053467525
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002211993 SCV002354181 likely benign Immunodeficiency 104 2023-12-20 criteria provided, single submitter clinical testing

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