ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.1399C>T (p.Leu467=)

gnomAD frequency: 0.00006  dbSNP: rs528252533
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
Invitae RCV001512651 SCV001720103 benign Nephronophthisis 15 2023-12-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001512651 SCV002801035 likely benign Nephronophthisis 15 2021-12-14 criteria provided, single submitter clinical testing

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