ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.3937A>C (p.Thr1313Pro)

dbSNP: rs758240656
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 RCV000877772 SCV001020556 benign Nephronophthisis 15 2019-12-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707458 SCV005232272 benign not provided criteria provided, single submitter not provided

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