ClinVar Miner

Submissions for variant NM_013352.4(DSE):c.1284T>C (p.Tyr428=)

dbSNP: rs1583235798
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000842336 SCV000984346 likely benign not provided 2018-04-26 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 RCV002536150 SCV003008409 likely benign Ehlers-Danlos syndrome, musculocontractural type 2 2022-08-04 criteria provided, single submitter clinical testing

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