ClinVar Miner

Submissions for variant NM_013352.4(DSE):c.714C>T (p.Thr238=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003583481 SCV004279113 likely benign Ehlers-Danlos syndrome, musculocontractural type 2 2024-07-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003901157 SCV004715373 likely benign DSE-related disorder 2023-12-29 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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