ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.458-81T>A

gnomAD frequency: 0.46896  dbSNP: rs7824650
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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 RCV001553853 SCV001774927 benign Farber lipogranulomatosis 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001553854 SCV001774928 benign Spinal muscular atrophy-progressive myoclonic epilepsy syndrome 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001615303 SCV001835465 benign not provided 2018-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001615303 SCV005265963 benign not provided criteria provided, single submitter not provided

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