ClinVar Miner

Submissions for variant GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ISCA site 1 RCV000143128 SCV000180664 likely pathogenic See cases 2013-09-27 no assertion criteria provided clinical testing
ISCA site 1 RCV000141896 SCV000182967 pathogenic See cases 2013-07-10 no assertion criteria provided clinical testing
ISCA site 1 RCV000143509 SCV000182981 pathogenic See cases 2013-07-16 no assertion criteria provided clinical testing
ISCA site 1 RCV000143533 SCV000183045 pathogenic See cases 2013-07-22 no assertion criteria provided clinical testing
ISCA site 1 RCV000143646 SCV000183342 likely pathogenic See cases 2014-07-18 no assertion criteria provided clinical testing
ISCA site 1 RCV000142212 SCV000183472 likely pathogenic See cases 2014-07-18 no assertion criteria provided clinical testing
ISCA site 6 RCV000134219 SCV000173744 pathogenic See cases 2010-11-30 no assertion criteria provided clinical testing

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