ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.2817G>A (p.Met939Ile)

gnomAD frequency: 0.00004  dbSNP: rs760355143
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734447 SCV000862591 uncertain significance not provided 2018-07-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001345688 SCV001539825 likely benign Nephronophthisis 2023-11-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499374 SCV002791832 uncertain significance Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2022-01-04 criteria provided, single submitter clinical testing

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