ClinVar Miner

Submissions for variant NM_013352.4(DSE):c.910+20G>A

gnomAD frequency: 0.00015  dbSNP: rs376761852
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419161 SCV000525852 likely benign not specified 2017-11-09 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 RCV002058945 SCV002467656 likely benign Ehlers-Danlos syndrome, musculocontractural type 2 2024-11-13 criteria provided, single submitter clinical testing

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