ClinVar Miner

Submissions for variant NM_013352.4(DSE):c.2482del (p.Gln828fs)

dbSNP: rs2115098611
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001733650 SCV001984393 uncertain significance Ehlers-Danlos syndrome, musculocontractural type 2 2020-10-06 criteria provided, single submitter clinical testing

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