ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3837dup (p.Ala1280fs)

dbSNP: rs1559998795
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Gharavi Laboratory, Columbia University RCV000722763 SCV000853894 uncertain significance not provided 2018-09-16 criteria provided, single submitter research
Molecular Biology Laboratory, Fundació Puigvert RCV001281247 SCV001425119 pathogenic Nephronophthisis 3 2020-02-01 criteria provided, single submitter research

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