ClinVar Miner

Submissions for variant NM_000883.4(IMPDH1):c.1108G>A (p.Ala370Thr) (rs72624961)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174020 SCV000225248 likely benign not specified 2017-08-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281510 SCV000466747 uncertain significance Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322287 SCV000466748 uncertain significance Retinitis Pigmentosa, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765929 SCV000897349 uncertain significance Retinitis pigmentosa 10; Leber congenital amaurosis 11 2018-10-31 criteria provided, single submitter clinical testing

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