ClinVar Miner

Submissions for variant NM_177924.4(ASAH1):c.-227T>G

gnomAD frequency: 0.08846  dbSNP: rs34466559
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000358441 SCV000472737 likely benign Farber lipogranulomatosis 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001613214 SCV001838646 benign not provided 2018-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001613214 SCV005220591 likely benign not provided criteria provided, single submitter not provided

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