ClinVar Miner

Submissions for variant GRCh37/hg19 16p13.11(chr16:15154115-16276115)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV001249391 SCV001423387 not provided Rubinstein-Taybi syndrome due to 16p13.3 microdeletion no assertion provided phenotyping only Variant interpretted as Pathogenic and reported on 12-04-2017 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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