ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.590T>G (p.Leu197Arg)

gnomAD frequency: 0.00001  dbSNP: rs757401076
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733074 SCV000861093 uncertain significance not provided 2018-04-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493352 SCV002804065 uncertain significance Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2021-12-25 criteria provided, single submitter clinical testing

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