ClinVar Miner

Submissions for variant NM_006364.4(SEC23A):c.2209-13dup

dbSNP: rs11418467
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000843940 SCV000985987 benign not provided 2018-06-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001516288 SCV001724551 benign Craniolenticulosutural dysplasia 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001516288 SCV002054710 benign Craniolenticulosutural dysplasia 2021-07-15 criteria provided, single submitter clinical testing

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