ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.3724G>A (p.Val1242Met) (rs201137087)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155269 SCV000204955 benign not specified 2016-11-01 criteria provided, single submitter clinical testing p.Val1242Met in exon 28 of PCDH15: This variant is not expected to have clinical significance because it has been identified in 0.5% (47/8638) of East Asian chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs201137087).
Invitae RCV000892246 SCV001036109 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001106029 SCV001263053 uncertain significance Usher syndrome type 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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