ClinVar Miner

Submissions for variant GRCh37/hg19 6p25.3-25.2(chr6:255350-3189972)x3

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Federico II University of Naples RCV000234962 SCV000292267 pathogenic Brachydactyly type E1 2016-07-09 no assertion criteria provided clinical testing A familial 6p25 duplication involving the gene FOXC1 has been detected in 4 women with brachydactyly type E. Two of the patients also have short stature

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