ClinVar Miner

Submissions for variant NM_002894.3(RBBP8):c.1009A>G (p.Lys337Glu) (rs121434388)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000281881 SCV000407792 uncertain significance Seckel syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318254 SCV000407793 uncertain significance Microcephaly with mental retardation and digital anomalies 2016-06-14 criteria provided, single submitter clinical testing
OMIM RCV000006180 SCV000026362 pathogenic Carcinoma of pancreas 1998-11-05 no assertion criteria provided literature only

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