ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.3200C>T (p.Ser1067Leu) (rs886059181)

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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 RCV000733465 SCV000861537 uncertain significance not provided 2018-05-29 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332267 SCV000448036 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382150 SCV000448037 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269011 SCV000448038 uncertain significance CC2D2A-Related Disorders 2016-06-14 criteria provided, single submitter clinical testing

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