ClinVar Miner

Submissions for variant NM_013352.4(DSE):c.1142T>C (p.Val381Ala)

gnomAD frequency: 0.05356  dbSNP: rs41313440
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426390 SCV000525638 benign not specified 2016-10-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001515479 SCV001723566 benign Ehlers-Danlos syndrome, musculocontractural type 2 2025-02-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000426390 SCV001808764 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000426390 SCV001953999 benign not specified no assertion criteria provided clinical testing

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