ClinVar Miner

Submissions for variant NM_198053.3(CD247):c.58+11C>A

gnomAD frequency: 0.00031  dbSNP: rs375286157
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 RCV001438064 SCV001640931 likely benign Immunodeficiency 25 2024-01-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711626 SCV005258033 likely benign not provided criteria provided, single submitter not provided

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