ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.194+13G>T

gnomAD frequency: 0.01147  dbSNP: rs116804346
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243933 SCV000312266 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001522913 SCV001732546 benign Nephronophthisis 15 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706728 SCV005232236 benign not provided criteria provided, single submitter not provided

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