ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.503+71G>A

gnomAD frequency: 0.33468  dbSNP: rs6586683
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001553849 SCV001774923 benign Farber lipogranulomatosis 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001553850 SCV001774924 benign Spinal muscular atrophy-progressive myoclonic epilepsy syndrome 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001647425 SCV001859992 benign not provided 2018-06-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001647425 SCV005265957 benign not provided criteria provided, single submitter not provided

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