ClinVar Miner

Submissions for variant GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ISCA site 1 RCV000050388 SCV000175094 pathogenic See cases 2014-12-19 no assertion criteria provided clinical testing
ISCA site 1 RCV000050550 SCV000175246 pathogenic See cases 2014-07-18 no assertion criteria provided clinical testing
ISCA site 1 RCV000136527 SCV000176603 uncertain significance See cases 2010-12-22 no assertion criteria provided clinical testing
ISCA site 1 RCV000133890 SCV000196183 pathogenic See cases 2013-02-04 no assertion criteria provided clinical testing
ISCA site 14 RCV000148104 SCV000190729 pathogenic See cases 2011-08-12 criteria provided, single submitter clinical testing
ISCA site 17 RCV000148104 SCV000190730 pathogenic See cases 2011-08-12 criteria provided, single submitter clinical testing
ISCA site 17 RCV000050388 SCV000196231 pathogenic See cases 2009-07-30 no assertion criteria provided clinical testing
ISCA site 4 RCV000050550 SCV000175248 pathogenic See cases 2013-04-23 no assertion criteria provided clinical testing
ISCA site 4 RCV000148104 SCV000190731 pathogenic See cases 2011-08-12 criteria provided, single submitter clinical testing
ISCA site 4 RCV000148100 SCV000190757 pathogenic See cases 2011-08-12 criteria provided, single submitter clinical testing
ISCA site 4 RCV000133890 SCV000196184 pathogenic See cases 2010-03-30 no assertion criteria provided clinical testing
ISCA site 4 RCV000050388 SCV000196232 pathogenic See cases 2013-09-18 no assertion criteria provided clinical testing
ISCA site 6 RCV000053032 SCV000080386 pathogenic See cases 2011-08-12 criteria provided, single submitter clinical testing

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