ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.511G>A (p.Ala171Thr)

gnomAD frequency: 0.00408  dbSNP: rs113765431
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224782 SCV000281078 likely benign not provided 2015-08-25 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
PreventionGenetics, part of Exact Sciences RCV000250562 SCV000312396 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084217 SCV001000654 benign Nephronophthisis 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000224782 SCV005260426 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000250562 SCV001978235 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000250562 SCV001979000 benign not specified no assertion criteria provided clinical testing

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