ClinVar Miner

Submissions for variant NM_013352.4(DSE):c.1860C>T (p.Asp620=)

gnomAD frequency: 0.00008  dbSNP: rs376227527
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001563269 SCV001786178 likely benign not provided 2020-07-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003583196 SCV004276257 likely benign Ehlers-Danlos syndrome, musculocontractural type 2 2023-10-29 criteria provided, single submitter clinical testing

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