ClinVar Miner

Submissions for variant NM_020928.2(ZSWIM6):c.1722C>T (p.Asp574=)

gnomAD frequency: 0.00290  dbSNP: rs187525163
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000972110 SCV001119804 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000972110 SCV001830743 benign not provided 2018-09-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001819119 SCV002069759 benign not specified 2017-08-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503083 SCV002809513 likely benign Acromelic frontonasal dysostosis; Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features 2022-01-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003906033 SCV004720562 benign ZSWIM6-related disorder 2019-06-11 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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