ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.3931A>C (p.Thr1311Pro)

dbSNP: rs756182128
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000877771 SCV001020555 benign Nephronophthisis 15 2019-12-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004708995 SCV005232270 benign not provided criteria provided, single submitter not provided

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