ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.79-50G>A

dbSNP: rs34482943
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243501 SCV000310082 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554116 SCV001775290 benign Farber lipogranulomatosis 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554117 SCV001775291 benign Spinal muscular atrophy-progressive myoclonic epilepsy syndrome 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001689843 SCV001914498 benign not provided 2018-06-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001689843 SCV005265992 benign not provided criteria provided, single submitter not provided

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