ClinVar Miner

Submissions for variant NM_020987.5(ANK3):c.12596-480C>G

gnomAD frequency: 0.00014  dbSNP: rs201845881
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336010 SCV001529283 uncertain significance Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 2018-01-26 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
PreventionGenetics, part of Exact Sciences RCV004545207 SCV004798994 likely benign ANK3-related disorder 2019-07-30 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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