ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.-219A>T

gnomAD frequency: 0.00011  dbSNP: rs539981182
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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 RCV000319968 SCV000472736 uncertain significance Farber lipogranulomatosis 2016-06-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504186 SCV002806878 uncertain significance Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; Farber lipogranulomatosis 2022-01-10 criteria provided, single submitter clinical testing

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