ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.1590+20A>G (rs7093302)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000252948 SCV000315058 benign not specified criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590545 SCV000699756 benign not provided 2016-04-26 criteria provided, single submitter clinical testing Variant summary: The variant of interest is located a non-conserved intronic position, not widely known to affect splicing, with 5/5 in silico programs via Alamut predicting no significant effect on splicing, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 80522/121302 (including 28510 homozygotes), which indicates that the variant of interest is the major allele (most commonly found in the general population). In addition, a reputable clinical laboratory cites the variant with a classification of "benign." Therefore, the variant of interest is classified as Benign.

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