ClinVar Miner

Submissions for variant NM_000074.3(CD40LG):c.409+17C>T

gnomAD frequency: 0.00001  dbSNP: rs1195970071
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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 RCV002155380 SCV002417990 benign Hyper-IgM syndrome type 1 2023-12-22 criteria provided, single submitter clinical testing

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