ClinVar Miner

Submissions for variant NM_000272.4(NPHP1):c.1637G>A (p.Arg546Lys) (rs149887461)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000261599 SCV000415884 uncertain significance Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319080 SCV000415885 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000385395 SCV000415886 uncertain significance Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000858772 SCV000636118 likely benign not provided 2018-05-21 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000591051 SCV000709538 likely benign not specified 2017-06-28 criteria provided, single submitter clinical testing

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