ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.3716C>T (p.Pro1239Leu)

gnomAD frequency: 0.01531  dbSNP: rs61995733
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246204 SCV000312275 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000544753 SCV000652467 benign Nephronophthisis 15 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV002285296 SCV002575860 likely benign not provided 2021-05-04 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Breakthrough Genomics, Breakthrough Genomics RCV002285296 SCV005232267 benign not provided criteria provided, single submitter not provided

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