ClinVar Miner

Submissions for variant GRCh37/hg19 12q24.21(chr12:116673140-116676995)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 RCV001265127 SCV001443160 pathogenic Mental retardation and distinctive facial features with or without cardiac defects 2018-01-19 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-01-19 and interpreted as pathogenic. Variant was initially reported as pathogenic by the Children's Hospital of Philadelphia PediSeq Research Study and was confirmed by Fulgent. The reporting laboratory might also submit to ClinVar. The variant was detected in multiple siblings and is believe to have been inherited from a parent with germline mosaicism. Additional phenotypic information for other sibling(s) might be available from Simons Searchlight.

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