ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3063G>A (p.Ala1021=)

gnomAD frequency: 0.00003  dbSNP: rs769832219
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000598039 SCV000702615 uncertain significance not provided 2016-10-07 criteria provided, single submitter clinical testing
Invitae RCV001294980 SCV001483882 likely benign Nephronophthisis 2023-06-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483585 SCV002790438 uncertain significance Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2021-09-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530666 SCV004719674 likely benign NPHP3-related disorder 2023-10-19 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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