ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.934G>A (p.Asp312Asn) (rs115275195)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507948 SCV000603494 uncertain significance not specified 2017-01-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327158 SCV000450220 likely benign Ellis-van Creveld Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379481 SCV000450221 likely benign Curry-Hall syndrome 2016-06-14 criteria provided, single submitter clinical testing

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