ClinVar Miner

Submissions for variant GRCh38/hg38 6q25.3(chr6:157179172-157184916)x1

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network,NIH RCV000708582 SCV000837708 likely pathogenic Coffin-Siris syndrome 1 2017-10-30 criteria provided, single submitter clinical testing ~5.75kb deletion in ARID1B encompassing exons 12-13 (NM_020732.3)

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