ClinVar Miner

Submissions for variant NM_178170.3(NEK8):c.1036G>A (p.Gly346Ser)

gnomAD frequency: 0.00001  dbSNP: rs1179113718
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791121 SCV000930395 uncertain significance Renal-hepatic-pancreatic dysplasia 2 2019-04-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487629 SCV002792505 uncertain significance Nephronophthisis 9; Renal-hepatic-pancreatic dysplasia 2 2022-03-22 criteria provided, single submitter clinical testing

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