ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.657T>C (p.Cys219=)

gnomAD frequency: 0.00001  dbSNP: rs200533815
Minimum review status: Collection method:
Minimum conflict level:
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) RCV000595020 SCV000708486 uncertain significance not provided 2017-05-08 criteria provided, single submitter clinical testing
Invitae RCV001483236 SCV001687621 likely benign Nephronophthisis 2023-12-28 criteria provided, single submitter clinical testing

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