ClinVar Miner

Submissions for variant GRCh38/hg38 16p11.2(chr16:29581462-30179247)x3

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ISCA site 1 RCV000050591 SCV000175256 pathogenic See cases 2018-02-14 no assertion criteria provided clinical testing
ISCA site 4 RCV000050591 SCV000175258 pathogenic See cases 2018-02-15 no assertion criteria provided clinical testing
ISCA site 14 RCV000148096 SCV000190767 pathogenic See cases 2018-02-15 no assertion criteria provided clinical testing Medical records review was possible in 3 out of 4 cases. Two cases presented with phenotypes correlated with the Decipher and MIM:614671 descriptions. In the third case, the phenotype may be masked by the significant global developmental delay that patient has. In one of the 3 cases reviewed, the CNV gain was maternally inherited, yet the mother has a history of panic and anxiety attacks as well as depression. For the 4th case, medical records were not available, however; the reasons for clinical testing, at age 5 years, were listed as encephalopathy, muscle weakness, and lack of coordination.
ISCA site 4 RCV000487472 SCV000190768 pathogenic See cases 2018-02-15 no assertion criteria provided clinical testing

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