ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3812+2dup

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004531734 SCV004121139 pathogenic NPHP3-related disorder 2023-06-21 criteria provided, single submitter clinical testing The NPHP3 c.3812+2dupT variant is predicted to result in an intronic duplication. which is predicted to abolish the canonical splice donor site (Alamut Visual Plus v1.6.1). This variant was reported in the compound heterozygous state in an individual with nephronophthisis 3 (Reported as c.3812+3insT in Tory et al 2009. PubMed ID: 19177160). This variant is reported in 0.0053% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/3-132401544-T-TA). This variant is interpreted as pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005030021 SCV005663529 likely pathogenic Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2024-03-01 criteria provided, single submitter clinical testing

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