ClinVar Miner

Submissions for variant NM_001195553.2(DCX):c.705+48A>G

gnomAD frequency: 0.00836  dbSNP: rs201805884
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243387 SCV000316610 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000243387 SCV000705376 benign not specified 2017-02-17 criteria provided, single submitter clinical testing
GeneDx RCV001589295 SCV001815127 likely benign not provided 2018-09-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28492530, 27884173, 12390976)
Breakthrough Genomics, Breakthrough Genomics RCV001589295 SCV005206714 likely benign not provided criteria provided, single submitter not provided

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