ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.1430A>G (p.His477Arg)

gnomAD frequency: 0.02549  dbSNP: rs117083334
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174578 SCV000225898 benign not specified 2015-04-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000174578 SCV000312263 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000547589 SCV000652459 benign Nephronophthisis 15 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000547589 SCV001806626 benign Nephronophthisis 15 2021-07-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706612 SCV005232248 benign not provided criteria provided, single submitter not provided

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