ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.1dup (p.Met1fs)

dbSNP: rs2108008416
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001938083 SCV002186084 uncertain significance Nephronophthisis 2021-11-16 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with NPHP3-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant occurs in a non-coding region of the NPHP3 gene. It does not change the encoded amino acid sequence of the NPHP3 protein. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002478358 SCV002788959 uncertain significance Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2022-03-23 criteria provided, single submitter clinical testing

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