ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.2197A>G (p.Lys733Glu)

gnomAD frequency: 0.00001  dbSNP: rs150593334
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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) RCV000733802 SCV000861901 uncertain significance not provided 2018-06-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000733802 SCV005189789 uncertain significance not provided criteria provided, single submitter not provided
Fulgent Genetics, Fulgent Genetics RCV005027918 SCV005658910 uncertain significance Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2024-01-24 criteria provided, single submitter clinical testing

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