ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.503+127G>A

gnomAD frequency: 0.32681  dbSNP: rs7387930
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001540868 SCV001758797 benign not provided 2018-06-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001553847 SCV001774921 benign Farber lipogranulomatosis 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001553848 SCV001774922 benign Spinal muscular atrophy-progressive myoclonic epilepsy syndrome 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001540868 SCV005265956 benign not provided criteria provided, single submitter not provided

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