ClinVar Miner

Submissions for variant NM_020987.5(ANK3):c.4907G>A (p.Arg1636Lys)

gnomAD frequency: 0.00017  dbSNP: rs188159332
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502808 SCV000593159 uncertain significance not specified 2016-08-22 criteria provided, single submitter clinical testing
Invitae RCV000879273 SCV001022294 likely benign not provided 2024-01-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333073 SCV004040722 uncertain significance Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 2023-03-31 criteria provided, single submitter clinical testing

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