ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.2311-2A>G

gnomAD frequency: 0.00001  dbSNP: rs1332659264
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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) RCV000596830 SCV000705124 pathogenic not provided 2016-12-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497265 SCV002809754 likely pathogenic Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2021-08-16 criteria provided, single submitter clinical testing

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