ClinVar Miner

Submissions for variant NM_013352.4(DSE):c.114C>T (p.Ala38=)

gnomAD frequency: 0.00553  dbSNP: rs36061922
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001718899 SCV000720678 benign not provided 2018-05-08 criteria provided, single submitter clinical testing
Invitae RCV000973393 SCV001121150 benign Ehlers-Danlos syndrome, musculocontractural type 2 2024-01-22 criteria provided, single submitter clinical testing

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