ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.126-21A>G

gnomAD frequency: 0.42360  dbSNP: rs12547845
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248257 SCV000310083 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000675811 SCV000979456 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 RCV001554040 SCV001775185 benign Farber lipogranulomatosis 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554041 SCV001775186 benign Spinal muscular atrophy-progressive myoclonic epilepsy syndrome 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000675811 SCV005265985 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000675811 SCV000801533 benign not provided 2015-10-22 no assertion criteria provided clinical testing

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