ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.2647C>T (p.His883Tyr)

dbSNP: rs886044248
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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) RCV000368068 SCV000344142 uncertain significance not provided 2016-08-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504019 SCV002775352 uncertain significance Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2022-02-27 criteria provided, single submitter clinical testing

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