ClinVar Miner

Submissions for variant NM_004356.4(CD81):c.597C>T (p.Ser199=)

gnomAD frequency: 0.07917  dbSNP: rs14077
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000331 SCV001157049 benign Immunodeficiency, common variable, 6 2023-11-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001522709 SCV001732301 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001522709 SCV001849589 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001522709 SCV005321326 benign not provided criteria provided, single submitter not provided

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