ClinVar Miner

Submissions for variant NC_000009.12:g.137729445_137745564dup

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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 RCV001269480 SCV001449494 pathogenic Kleefstra syndrome 1 2020-10-13 criteria provided, single submitter clinical testing 16,119bp tandem duplication involving exons 5 and 6. Results in frameshift and introduction of termination codon. Paternal mosaicism confirmed in unaffected father.

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