ClinVar Miner

Submissions for variant NM_178170.3(NEK8):c.1071+13G>C

dbSNP: rs775567721
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002153107 SCV002460206 likely benign Nephronophthisis 9 2021-07-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486959 SCV002797173 likely benign Nephronophthisis 9; Renal-hepatic-pancreatic dysplasia 2 2022-02-11 criteria provided, single submitter clinical testing

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