ClinVar Miner

Submissions for variant NM_014822.4(SEC24D):c.673+8G>A

gnomAD frequency: 0.89370  dbSNP: rs6843524
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001641316 SCV001859598 benign not provided 2018-08-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807460 SCV002054730 benign Cole-Carpenter syndrome 2 2021-07-15 criteria provided, single submitter clinical testing
Invitae RCV001641316 SCV002334991 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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