ClinVar Miner

Submissions for variant NM_015243.2(VPS13B):c.1293T>G (p.Thr431=) (rs77759532)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716416 SCV000847256 benign History of neurodevelopmental disorder 2016-11-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118836 SCV000153484 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Illumina Clinical Services Laboratory,Illumina RCV000285313 SCV000470766 likely benign Cohen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000285313 SCV000630863 benign Cohen syndrome 2017-11-18 criteria provided, single submitter clinical testing

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