ClinVar Miner

Submissions for variant NM_013352.4(DSE):c.95T>A (p.Met32Lys)

dbSNP: rs140765634
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331800 SCV001523923 uncertain significance Ehlers-Danlos syndrome, musculocontractural type 2 2020-02-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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