ClinVar Miner

Submissions for variant GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ISCA site 1 RCV000139942 SCV000180599 pathogenic See cases 2013-03-26 no assertion criteria provided clinical testing
ISCA site 1 RCV000140902 SCV000181740 pathogenic See cases 2013-09-27 no assertion criteria provided clinical testing
ISCA site 1 RCV000143304 SCV000181786 pathogenic See cases 2013-04-09 no assertion criteria provided clinical testing
ISCA site 1 RCV000141980 SCV000183099 pathogenic See cases 2013-08-05 no assertion criteria provided clinical testing
ISCA site 1 RCV000142030 SCV000183169 pathogenic See cases 2014-07-18 no assertion criteria provided clinical testing
ISCA site 1 RCV000143612 SCV000183269 pathogenic See cases 2015-07-14 no assertion criteria provided clinical testing
ISCA site 1 RCV000143745 SCV000183608 pathogenic See cases 2014-07-18 no assertion criteria provided clinical testing
ISCA site 6 RCV000135484 SCV000175221 likely pathogenic See cases 2010-11-30 no assertion criteria provided clinical testing
ISCA site 6 RCV000141344 SCV000182253 pathogenic See cases 2011-04-30 no assertion criteria provided clinical testing

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