ClinVar Miner

Submissions for variant NM_002838.5(PTPRC):c.1704A>G (p.Leu568=)

gnomAD frequency: 0.00109  dbSNP: rs148811970
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 RCV000640074 SCV000761662 benign Immunodeficiency 104 2020-03-25 criteria provided, single submitter clinical testing

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