ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.1041+19C>A

gnomAD frequency: 0.00037  dbSNP: rs17126194
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001585149 SCV001818474 likely benign not provided 2018-08-17 criteria provided, single submitter clinical testing
Invitae RCV001585149 SCV002448396 benign not provided 2024-01-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506691 SCV002804417 likely benign Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; Farber lipogranulomatosis 2022-01-05 criteria provided, single submitter clinical testing

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