ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.*176_*177del

dbSNP: rs374131883
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
Illumina Laboratory Services, Illumina RCV000302753 SCV000472707 uncertain significance Farber lipogranulomatosis 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004696061 SCV005195820 uncertain significance not provided criteria provided, single submitter not provided

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