ClinVar Miner

Submissions for variant NM_198053.3(CD247):c.39G>A (p.Gln13=)

gnomAD frequency: 0.00001  dbSNP: rs760945719
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000528486 SCV000642003 likely benign Immunodeficiency 25 2023-01-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004597824 SCV005092960 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing CD247: BP4, BP7

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