ClinVar Miner

Submissions for variant NM_000272.4(NPHP1):c.1035A>G (p.Gln345=) (rs371112962)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173662 SCV000224801 uncertain significance not provided 2015-01-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305677 SCV000415896 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000353470 SCV000415897 uncertain significance Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000390136 SCV000415898 uncertain significance Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000173662 SCV001003185 likely benign not provided 2018-12-29 criteria provided, single submitter clinical testing

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