ClinVar Miner

Submissions for variant NM_181789.4(GLDN):c.95C>A (p.Ala32Glu)

gnomAD frequency: 0.00006  dbSNP: rs779432560
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000258834 SCV001468655 likely pathogenic Lethal congenital contracture syndrome 11 2020-11-30 criteria provided, single submitter research ACMG codes:PS3, PM2
OMIM RCV000258834 SCV000328561 pathogenic Lethal congenital contracture syndrome 11 2016-11-09 no assertion criteria provided literature only

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