ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.489G>T (p.Leu163=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003817848 SCV004607301 likely benign Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2024-08-26 criteria provided, single submitter clinical testing

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