ClinVar Miner

Submissions for variant GRCh37/hg19 12p13.1(chr12:14042568-14133113)x1

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect - Simons Searchlight RCV001265142 SCV001443177 likely pathogenic Complex neurodevelopmental disorder 2018-09-05 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-09-05 and interpreted as Likely Pathogenic. Variant was initially reported on 2016-10-19 by GTR ID of laboratory name Women and Infants Hospital of Rhode Island . The reporting laboratory might also submit to ClinVar.

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