ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.1935-5C>G

gnomAD frequency: 0.12409  dbSNP: rs897837
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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 RCV000251290 SCV000312265 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001511797 SCV001719094 benign Nephronophthisis 15 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001511797 SCV001806596 benign Nephronophthisis 15 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001683073 SCV001904480 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001683073 SCV005232255 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000251290 SCV001743783 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000251290 SCV001959910 benign not specified no assertion criteria provided clinical testing

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