ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.917+4A>G

dbSNP: rs397509415
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000049322 SCV000081754 pathogenic Farber lipogranulomatosis 2013-07-01 no assertion criteria provided literature only
GeneReviews RCV000049322 SCV000778528 not provided Farber lipogranulomatosis no assertion provided literature only

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