ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.2655C>T (p.Thr885=)

gnomAD frequency: 0.00422  dbSNP: rs61737637
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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 RCV000253465 SCV000312268 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000650291 SCV000772132 benign Nephronophthisis 15 2025-02-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000650291 SCV002806553 likely benign Nephronophthisis 15 2021-08-31 criteria provided, single submitter clinical testing

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