ClinVar Miner

Submissions for variant GRCh37/hg19 18p11.32(chr18:13034-547239)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000767813 SCV000898435 likely pathogenic not provided 2018-11-01 criteria provided, single submitter clinical testing Deletions involving this region have been previously reported in patients with hypotonia, developmental delay, intellectual disability and dysmorphic features [PMID: 27633903, 21326286]

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