ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.2112T>C (p.Cys704=)

gnomAD frequency: 0.00002  dbSNP: rs761833505
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330460 SCV001522142 uncertain significance NPHP3-related Meckel-like syndrome 2019-07-17 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002546392 SCV003440976 likely benign Nephronophthisis 2023-08-04 criteria provided, single submitter clinical testing

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