ClinVar Miner

Submissions for variant NM_019098.4(CNGB3):c.494-21dup (rs36008065)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000385627 SCV000475239 likely benign Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293509 SCV000475240 likely benign Achromatopsia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000838381 SCV000980247 benign not provided 2018-06-11 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.
Invitae RCV000838381 SCV001733329 benign not provided 2020-11-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV000293509 SCV001454557 benign Achromatopsia 2020-09-16 no assertion criteria provided clinical testing

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