ClinVar Miner

Submissions for variant NM_002838.5(PTPRC):c.1879C>T (p.Leu627=)

gnomAD frequency: 0.00001  dbSNP: rs1654391777
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 RCV002108790 SCV002438495 likely benign Immunodeficiency 104 2022-01-27 criteria provided, single submitter clinical testing

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