ClinVar Miner

Submissions for variant NM_020928.2(ZSWIM6):c.1729C>T (p.Arg577Cys)

gnomAD frequency: 0.00361  dbSNP: rs116036211
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital RCV000736090 SCV000864357 benign not specified 2017-04-19 criteria provided, single submitter clinical testing BS1,BS2; This alteration has an allele frequency that is greater than expected for the associated disease, and was seen in a healthy adult where full penetrance of the disorder is expected at an early age.
Invitae RCV000974385 SCV001122207 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000974385 SCV003916945 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing ZSWIM6: BS2
PreventionGenetics, part of Exact Sciences RCV003918230 SCV004736345 benign ZSWIM6-related condition 2019-08-19 criteria provided, single submitter 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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