ClinVar Miner

Submissions for variant NM_001006658.3(CR2):c.3141C>A (p.Thr1047=)

gnomAD frequency: 0.00002  dbSNP: rs776576193
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 RCV001392819 SCV001594468 likely benign Immunodeficiency, common variable, 7 2022-09-27 criteria provided, single submitter clinical testing

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