ClinVar Miner

Submissions for variant NM_024529.4(CDC73):c.1418-17C>G (rs11583414)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000020880 SCV000041474 benign Parathyroid carcinoma 2012-05-24 no assertion criteria provided curation Converted during submission to Benign.
Integrated Genetics/Laboratory Corporation of America RCV000590225 SCV000699510 benign not provided 2016-04-28 criteria provided, single submitter clinical testing Variant summary: c.1418-17C>G in the CDC73 gene is an intronic change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in the control population dataset of ExAC at frequency of 5.97%, including numerous homozygous occurrences. The observed frequency greatly exceeds the maximum expected allele frequency for a pathogenic variant of 0.0004%, suggesting that it is a benign polymorphism. The variant of interest has been reported as Benign/Polymorphism by a reputable database and published reports (Newey, 2010; Frank-Raue, 2011). Taking together, based on the prevalence of this variant in general population the variant was classified as Benign.
PreventionGenetics RCV000252886 SCV000314343 benign not specified criteria provided, single submitter clinical testing

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