ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.367-17T>C

gnomAD frequency: 0.00235  dbSNP: rs77096313
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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 RCV002132224 SCV002405266 benign Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2025-01-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717878 SCV005312442 benign not provided criteria provided, single submitter not provided

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