ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.1455G>A (p.Thr485=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003431267 SCV004149921 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing SEC23B: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003778418 SCV004578270 likely benign Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2024-03-26 criteria provided, single submitter clinical testing

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