ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.766-36T>A

gnomAD frequency: 0.54836  dbSNP: rs2305826
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001579188 SCV001806625 benign Nephronophthisis 15 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001694133 SCV001914875 benign not provided 2021-05-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001694133 SCV005232244 benign not provided criteria provided, single submitter not provided

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