ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.3561C>T (p.Gly1187=)

gnomAD frequency: 0.00003  dbSNP: rs1041168838
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001500922 SCV001705723 likely benign Nephronophthisis 2024-09-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540457 SCV004800663 likely benign NPHP4-related disorder 2021-11-09 no assertion criteria provided 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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