ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.511G>A (p.Ala171Thr) (rs113765431)

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Total submissions: 3
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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,PreventionGenetics RCV000250562 SCV000312396 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001084217 SCV001000654 benign Nephronophthisis 2019-12-31 criteria provided, single submitter clinical testing

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