ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.1317G>T (p.Glu439Asp)

gnomAD frequency: 0.00176  dbSNP: rs147410912
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000638851 SCV000760405 likely benign Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001509052 SCV001474410 uncertain significance not provided 2022-02-03 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001509052 SCV001715554 uncertain significance not provided 2022-05-03 criteria provided, single submitter clinical testing

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