ClinVar Miner

Submissions for variant NM_013352.4(DSE):c.216G>A (p.Thr72=)

gnomAD frequency: 0.00164  dbSNP: rs61747210
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000827034 SCV000968646 likely benign not provided 2021-04-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087018 SCV001025932 benign Ehlers-Danlos syndrome, musculocontractural type 2 2024-01-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000827034 SCV002497450 likely benign not provided 2022-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001087018 SCV002808505 benign Ehlers-Danlos syndrome, musculocontractural type 2 2022-02-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955540 SCV004767272 likely benign DSE-related disorder 2020-02-10 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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