ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.1098+120T>G

dbSNP: rs420610
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000837623 SCV000979483 benign not provided 2018-06-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001553843 SCV001774916 benign Spinal muscular atrophy-progressive myoclonic epilepsy syndrome 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554175 SCV001775380 benign Farber lipogranulomatosis 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000837623 SCV005265947 benign not provided criteria provided, single submitter not provided

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