ClinVar Miner

Submissions for variant NM_014822.4(SEC24D):c.1042-6C>G

gnomAD frequency: 0.00120  dbSNP: rs117971741
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514280 SCV000609615 likely benign not provided 2017-03-29 criteria provided, single submitter clinical testing
Invitae RCV000514280 SCV001034541 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000514280 SCV001841838 benign not provided 2020-03-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496978 SCV002809393 likely benign Cole-Carpenter syndrome 2 2021-09-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003902820 SCV004721280 benign SEC24D-related condition 2019-03-21 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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