ClinVar Miner

Submissions for variant NM_002838.5(PTPRC):c.1191T>C (p.Ile397=)

gnomAD frequency: 0.00004  dbSNP: rs769099460
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001454303 SCV001658026 likely benign Immunodeficiency 104 2023-10-29 criteria provided, single submitter clinical testing

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