ClinVar Miner

Submissions for variant GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ISCA site 14 RCV000148163 SCV000078020 pathogenic See cases 2011-08-12 criteria provided, single submitter clinical testing
ISCA site 4 RCV000050868 SCV000078201 pathogenic See cases 2011-08-12 criteria provided, single submitter clinical testing
ISCA Site 6 RCV000053191 SCV000080549 pathogenic See cases 2011-08-12 criteria provided, single submitter clinical testing
ISCA site 4 RCV000050688 SCV000175274 pathogenic See cases 2013-06-25 no assertion criteria provided clinical testing
ISCA site 1 RCV000050688 SCV000175275 likely pathogenic See cases 2018-02-14 no assertion criteria provided clinical testing
ISCA site 1 RCV000142666 SCV000176693 pathogenic See cases 2010-12-22 no assertion criteria provided clinical testing
ISCA site 1 RCV000137559 SCV000177787 pathogenic See cases 2012-10-24 no assertion criteria provided clinical testing
ISCA site 1 RCV000142804 SCV000178505 pathogenic See cases 2013-09-27 no assertion criteria provided clinical testing

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