ClinVar Miner

Submissions for variant NM_006364.4(SEC23A):c.1900-46A>T

gnomAD frequency: 0.75282  dbSNP: rs4902326
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001655992 SCV001861699 benign not provided 2018-07-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807466 SCV002054711 benign Craniolenticulosutural dysplasia 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001655992 SCV005296191 benign not provided criteria provided, single submitter not provided

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