ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.993+19G>A

gnomAD frequency: 0.00281  dbSNP: rs144225458
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000878355 SCV001021248 benign Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2024-02-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811532 SCV002048831 benign not provided 2023-03-17 criteria provided, single submitter clinical testing
GeneDx RCV001811532 SCV002504255 likely benign not provided 2019-12-19 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
CeGaT Center for Human Genetics Tuebingen RCV001811532 SCV004149919 benign not provided 2024-08-01 criteria provided, single submitter clinical testing SEC23B: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001811532 SCV005207415 likely benign not provided criteria provided, single submitter not provided

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