ClinVar Miner

Submissions for variant GRCh38/hg38 9q34.3(chr9:135791488-138262981)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Genetics, Children's Clinical University Hospital Latvia RCV004720522 SCV005049622 pathogenic Kleefstra syndrome 1 criteria provided, single submitter curation

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