ClinVar Miner

Submissions for variant NM_020928.2(ZSWIM6):c.2738G>A (p.Arg913Gln)

gnomAD frequency: 0.00004  dbSNP: rs1389523495
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV002266115 SCV002546564 uncertain significance Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features 2022-07-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003096002 SCV003312817 benign not provided 2024-02-16 criteria provided, single submitter clinical testing

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