ClinVar Miner

Submissions for variant NM_181789.4(GLDN):c.385_392del (p.Cys129fs)

dbSNP: rs2037658180
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hadassah Hebrew University Medical Center RCV001172314 SCV001335338 likely pathogenic Lethal congenital contracture syndrome 11 2019-06-20 criteria provided, single submitter clinical testing

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