ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.2527C>G (p.Pro843Ala)

gnomAD frequency: 0.00003  dbSNP: rs775263560
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000696553 SCV000825117 uncertain significance Nephronophthisis 2021-08-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493207 SCV002782913 uncertain significance Nephronophthisis 4; Senior-Loken syndrome 4 2021-10-15 criteria provided, single submitter clinical testing

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