ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.3850C>T (p.Arg1284Cys)

gnomAD frequency: 0.00010  dbSNP: rs779755743
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733170 SCV000861201 uncertain significance not provided 2018-05-08 criteria provided, single submitter clinical testing
Invitae RCV001078560 SCV001002670 likely benign Nephronophthisis 2023-08-07 criteria provided, single submitter clinical testing

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