ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.619C>T (p.Leu207=)

gnomAD frequency: 0.00006  dbSNP: rs765514910
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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) RCV000735118 SCV000863318 uncertain significance not provided 2018-09-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507312 SCV002806816 uncertain significance Nephronophthisis 4; Senior-Loken syndrome 4 2022-01-05 criteria provided, single submitter clinical testing
Invitae RCV002535417 SCV003262913 likely benign Nephronophthisis 2023-07-31 criteria provided, single submitter clinical testing

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