ClinVar Miner

Submissions for variant NM_001371928.1(AHDC1):c.100A>C (p.Thr34Pro)

gnomAD frequency: 0.32198  dbSNP: rs758473342
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455529 SCV000538246 uncertain significance not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: only coveraged in 169 individuals in ExAC - looks like exome FP. LOF variants in this gene associated with syndromic expressive language delay, hypotonia & sleep apnoea, some overlap with dysmorphic features however all affected had hypoplasia of the corpus callosum, which was not seen in this individual
GeneDx RCV001712404 SCV001940595 benign not provided 2019-08-10 criteria provided, single submitter clinical testing

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