ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.3356A>G (p.Gln1119Arg)

gnomAD frequency: 0.47249  dbSNP: rs573455
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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 RCV000243054 SCV000312274 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001511276 SCV001718487 benign Nephronophthisis 15 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001511276 SCV001806598 benign Nephronophthisis 15 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001711714 SCV001940519 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001711714 SCV005232265 benign not provided criteria provided, single submitter not provided

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