ClinVar Miner

Submissions for variant NM_013352.4(DSE):c.2727T>C (p.Ile909=)

gnomAD frequency: 0.00017  dbSNP: rs199742443
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698494 SCV000732165 likely benign not provided 2020-08-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002066841 SCV002464087 likely benign Ehlers-Danlos syndrome, musculocontractural type 2 2024-12-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965295 SCV004783265 likely benign DSE-related disorder 2023-05-30 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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