ClinVar Miner

Submissions for variant NM_013352.4(DSE):c.2619_2621del (p.Gly874del)

dbSNP: rs111252008
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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 RCV000539080 SCV000654699 benign Ehlers-Danlos syndrome, musculocontractural type 2 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001618732 SCV000714893 benign not provided 2018-04-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279359 SCV002565866 benign Ehlers-Danlos syndrome 2022-03-17 criteria provided, single submitter clinical testing
GeneDx RCV001618732 SCV001843180 benign not provided 2017-05-31 flagged submission clinical testing
PreventionGenetics, part of Exact Sciences RCV003980017 SCV004798102 benign DSE-related disorder 2019-05-02 no assertion criteria provided 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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