ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.3144C>T (p.Ala1048=)

dbSNP: rs540738356
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001451052 SCV001654671 likely benign Nephronophthisis 2023-09-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500799 SCV002807136 likely benign Nephronophthisis 4; Senior-Loken syndrome 4 2021-09-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003897560 SCV004715275 likely benign NPHP4-related condition 2022-12-07 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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