ClinVar Miner

Submissions for variant GRCh37/hg19 12q24.21(chr12:116528514-116605811)x1

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001006536 SCV001166094 pathogenic not provided 2018-06-07 no assertion criteria provided clinical testing
GenomeConnect - Simons Searchlight RCV001265125 SCV001443158 likely pathogenic Mental retardation and distinctive facial features with or without cardiac defects 2018-12-03 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-12-03 and interpreted as Likely Pathogenic. Variant was initially reported on 2018-06-18 by GTR ID of laboratory name 500110. The reporting laboratory might also submit to ClinVar.

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