ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.454C>T (p.Gln152Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005026860 SCV005656376 likely pathogenic Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2024-03-19 criteria provided, single submitter clinical testing

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