ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.281G>A (p.Ser94Asn)

gnomAD frequency: 0.21761  dbSNP: rs490262
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249179 SCV000312270 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001511796 SCV001719093 benign Nephronophthisis 15 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001511796 SCV001806624 benign Nephronophthisis 15 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001689873 SCV001915380 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001689873 SCV005232238 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000249179 SCV001739519 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000249179 SCV001959744 benign not specified no assertion criteria provided clinical testing

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