ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.750-105T>C

gnomAD frequency: 0.53777  dbSNP: rs3744105
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000834245 SCV000976013 benign not provided 2018-06-19 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.
Genome-Nilou Lab RCV001527123 SCV001738001 benign Bardet-Biedl syndrome 13 2021-06-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001527124 SCV001738002 benign Joubert syndrome 28 2021-06-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000834245 SCV005250599 benign not provided criteria provided, single submitter not provided

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