ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.194+20G>A

gnomAD frequency: 0.00070  dbSNP: rs184566454
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001514224 SCV001722020 benign Nephronophthisis 15 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001514224 SCV002795414 benign Nephronophthisis 15 2021-07-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707639 SCV005232237 benign not provided criteria provided, single submitter not provided

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