ClinVar Miner

Submissions for variant GRCh37/hg19 1q21.1-21.2(chr1:146542843-147857135)x1

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000239847 SCV000298624 pathogenic See cases 2016-01-20 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV002509026 SCV002818423 not provided Chromosome 1q21.1 deletion syndrome no assertion provided phenotyping only Variant classified as Pathogenic and reported on 12-04-2018 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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