ClinVar Miner

Submissions for variant NM_177924.4(ASAH1):c.-104C>G

gnomAD frequency: 0.00101  dbSNP: rs546277660
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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 RCV000354341 SCV000472734 uncertain significance Farber lipogranulomatosis 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004696062 SCV005195823 uncertain significance not provided criteria provided, single submitter not provided

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