ClinVar Miner

Submissions for variant NM_002860.4(ALDH18A1):c.2110+24A>T

gnomAD frequency: 0.27977  dbSNP: rs2296691
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000838033 SCV000979897 benign not provided 2018-06-14 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 RCV001548997 SCV001769031 benign Cutis laxa, autosomal dominant 3 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549091 SCV001769176 benign ALDH18A1-related de Barsy syndrome 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549092 SCV001769177 benign Hereditary spastic paraplegia 9A 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549093 SCV001769178 benign Autosomal recessive complex spastic paraplegia type 9B 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000838033 SCV005324082 benign not provided criteria provided, single submitter not provided

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