ClinVar Miner

Submissions for variant NM_001195553.2(DCX):c.948A>C (p.Ala316=)

gnomAD frequency: 0.00008  dbSNP: rs770799939
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000720719 SCV000851600 likely benign History of neurodevelopmental disorder 2017-03-26 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Athena Diagnostics Inc RCV000991878 SCV001143713 benign not provided 2019-06-28 criteria provided, single submitter clinical testing
Invitae RCV000991878 SCV002356829 benign not provided 2021-09-28 criteria provided, single submitter clinical testing

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