ClinVar Miner

Submissions for variant NM_000063.6(C2):c.2046A>G (p.Ala682=) (rs45507391)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000260084 SCV000461977 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269678 SCV000461978 likely benign Complement component 2 deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000355015 SCV000484201 likely benign Atypical hemolytic uremic syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000260084 SCV000484202 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing

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