ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.2149-21TTG[4]

dbSNP: rs746737770
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002123874 SCV002441993 likely benign Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2023-11-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438967 SCV004152508 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing SEC23B: BP4

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