ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.985G>T (p.Ala329Ser)

dbSNP: rs143417821
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000794676 SCV000934098 likely benign Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2024-11-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004692261 SCV005194897 uncertain significance not provided criteria provided, single submitter not provided
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV001772048 SCV002011789 likely pathogenic Cowden syndrome 7 2021-08-31 no assertion criteria provided clinical testing

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