ClinVar Miner

Submissions for variant NM_020987.5(ANK3):c.1492-12C>A

gnomAD frequency: 0.00138  dbSNP: rs41283530
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196454 SCV001367062 uncertain significance Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 2019-11-07 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3,BS1.
Labcorp Genetics (formerly Invitae), Labcorp RCV002071849 SCV002403187 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002071849 SCV003916600 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing ANK3: BS2

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