ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.3028G>A (p.Asp1010Asn)

gnomAD frequency: 0.00017  dbSNP: rs200166175
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176217 SCV000227834 uncertain significance not provided 2017-06-29 criteria provided, single submitter clinical testing
Invitae RCV001085756 SCV001131893 likely benign Nephronophthisis 2023-12-03 criteria provided, single submitter clinical testing
GeneDx RCV000176217 SCV001992226 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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