ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.2772C>G (p.Leu924=)

gnomAD frequency: 0.00201  dbSNP: rs117473319
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245248 SCV000312269 likely benign not specified criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625375 SCV000745138 likely benign Nephronophthisis 15 2017-06-28 criteria provided, single submitter clinical testing
Invitae RCV000625375 SCV000772131 benign Nephronophthisis 15 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000625375 SCV002806677 likely benign Nephronophthisis 15 2021-11-08 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000245248 SCV001924022 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001706350 SCV001931522 likely benign not provided no assertion criteria provided clinical testing

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