ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.1149T>G (p.Phe383Leu)

gnomAD frequency: 0.00001  dbSNP: rs747256150
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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) RCV000731083 SCV000858855 uncertain significance not provided 2017-12-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477703 SCV002778824 uncertain significance Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2021-11-11 criteria provided, single submitter clinical testing

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