ClinVar Miner

Submissions for variant NC_000017.10:g.(34360227_34437475)_(36214026_36473024)del

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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 RCV000191150 SCV000245559 pathogenic Chromosome 17q12 deletion syndrome 2015-02-27 criteria provided, single submitter clinical testing This deletion was found in our laboratory in a 20-year-old male with significant muscle wasting and weakness, intellectual disability, regression, spasticity, ataxia, macrocephaly, dysmorphisms, failure to thrive, behavior problems.

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