ClinVar Miner

Submissions for variant NM_198053.3(CD247):c.430-12C>G

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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 RCV002999200 SCV003297287 likely benign Immunodeficiency 25 2022-01-14 criteria provided, single submitter clinical testing

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