ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.4119C>T (p.Asn1373=)

gnomAD frequency: 0.02599  dbSNP: rs73016324
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246707 SCV000312278 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000551697 SCV000652473 benign Nephronophthisis 15 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001683074 SCV001901515 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001683074 SCV005232273 benign not provided criteria provided, single submitter not provided

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