ClinVar Miner

Submissions for variant NM_001006658.3(CR2):c.1978+7A>T

gnomAD frequency: 0.00068  dbSNP: rs201274951
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 RCV000948237 SCV001094436 benign Immunodeficiency, common variable, 7 2023-12-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714160 SCV005284827 benign not provided criteria provided, single submitter not provided

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