ClinVar Miner

Submissions for variant NM_198053.3(CD247):c.429+16G>A

gnomAD frequency: 0.00001  dbSNP: rs777799139
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002076094 SCV002424477 likely benign Immunodeficiency 25 2022-12-06 criteria provided, single submitter clinical testing

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