ClinVar Miner

Submissions for variant NM_001165927.1(MKS1):c.161-44G>A (rs73329636)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000114213 SCV000312934 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000835383 SCV000977174 benign not provided 2018-06-16 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.
Nilou-Genome Lab RCV001527127 SCV001738005 benign Bardet-Biedl syndrome 13 2021-06-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001527128 SCV001738006 benign Joubert syndrome 28 2021-06-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000114213 SCV000147766 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.

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