ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.126-1873G>A

gnomAD frequency: 0.42287  dbSNP: rs3753115
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454518 SCV000538356 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 47% of total chromosomes in ExAC
GeneDx RCV000837595 SCV000979451 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 RCV001554113 SCV001775286 benign Farber lipogranulomatosis 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554114 SCV001775287 benign Spinal muscular atrophy-progressive myoclonic epilepsy syndrome 2021-07-14 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000454518 SCV001919366 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000454518 SCV001963014 benign not specified no assertion criteria provided clinical testing

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