ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.221+3A>G

gnomAD frequency: 0.00001  dbSNP: rs777858803
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001050923 SCV001215052 uncertain significance Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2021-08-31 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV002261265 SCV002541676 uncertain significance not provided 2021-05-13 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002261265 SCV003819274 uncertain significance not provided 2023-07-25 criteria provided, single submitter clinical testing

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