ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.3932C>G (p.Thr1311Ser)

gnomAD frequency: 0.00444  dbSNP: rs61743854
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000241919 SCV000312277 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000558627 SCV000652471 benign Nephronophthisis 15 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001610689 SCV001834022 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001610689 SCV005232271 benign not provided criteria provided, single submitter not provided

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