ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.457+45A>G

gnomAD frequency: 0.64032  dbSNP: rs2073574
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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 RCV000250121 SCV000310089 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000837756 SCV000979616 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 RCV001553855 SCV001774929 benign Farber lipogranulomatosis 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001553856 SCV001774930 benign Spinal muscular atrophy-progressive myoclonic epilepsy syndrome 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000837756 SCV005265966 benign not provided criteria provided, single submitter not provided

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