ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.347del (p.Lys116fs)

dbSNP: rs751277203
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001283852 SCV001727092 benign Nephronophthisis 15 2023-12-11 criteria provided, single submitter clinical testing
GeneDx RCV001797168 SCV002038650 benign not provided 2021-12-16 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001283852 SCV001469288 likely pathogenic Nephronophthisis 15 2020-10-11 no assertion criteria provided clinical testing

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