ClinVar Miner

Submissions for variant NM_018294.6(CWF19L1):c.1568G>A (p.Arg523His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics, Royal Melbourne Hospital RCV003994608 SCV004812446 benign Autosomal recessive spinocerebellar ataxia 17 2023-05-04 criteria provided, single submitter clinical testing European Non-Finnish population allele frequency is 2.395% (rs35490714, 881/25114 alleles, 13 homozygotes in gnomAD v2.1). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.5.1, this variant is classified as BENIGN. Following criteria are met: BA1
PreventionGenetics, part of Exact Sciences RCV003973925 SCV004789852 benign CWF19L1-related disorder 2019-09-10 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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