ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.3090-16A>C

gnomAD frequency: 0.60559  dbSNP: rs693147
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245701 SCV000312272 benign not specified criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000245701 SCV000538662 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Labcorp Genetics (formerly Invitae), Labcorp RCV001511275 SCV001718486 benign Nephronophthisis 15 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001640551 SCV001856663 benign not provided 2021-05-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001640551 SCV005232263 benign not provided criteria provided, single submitter not provided

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