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

gnomAD frequency: 0.42287  dbSNP: rs3753115

Total submissions: 7

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
Breakthrough Genomics, Breakthrough Genomics	RCV000837595	SCV005265990	benign	not provided		criteria provided, single submitter	not provided
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