ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.388+1164_792+795del

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000766209 SCV000897689 pathogenic XFE progeroid syndrome 2019-04-04 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001034543 SCV001197908 likely pathogenic Hutchinson-Gilford syndrome no assertion criteria provided research
Leiden Open Variation Database RCV001194774 SCV001364558 pathogenic not provided 2017-11-03 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Junko Oshima.

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