ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.3451G>A (p.Gly1151Arg) (rs149478475)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757596 SCV000885889 benign not provided 2018-02-02 criteria provided, single submitter clinical testing
GeneDx RCV000757596 SCV000976840 benign not provided 2018-06-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000156763 SCV000206484 likely benign not specified 2017-01-12 criteria provided, single submitter clinical testing p.Gly1151Arg in exon 26 of PCDH15: This variant is not expected to have clinical significance because it has been identified in 1.7% (322/18942) of East Asian c hromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstit ute.org/; dbSNP rs149478475).

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