ClinVar Miner

Submissions for variant NM_177924.4(ASAH1):c.-101G>A

gnomAD frequency: 0.02366  dbSNP: rs139001299
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000297005 SCV000472733 uncertain significance Farber lipogranulomatosis 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001560351 SCV001782742 likely benign not provided 2018-06-28 criteria provided, single submitter clinical testing

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