ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.-15G>A

gnomAD frequency: 0.07112  dbSNP: rs76269601
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248197 SCV000316116 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000248197 SCV000338724 benign not specified 2016-03-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000302782 SCV000450115 likely benign Ellis-van Creveld syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000404157 SCV000484090 benign Curry-Hall syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000302782 SCV000484091 benign Ellis-van Creveld syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000248197 SCV000516522 benign not specified 2016-03-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Breakthrough Genomics, Breakthrough Genomics RCV004710673 SCV005256682 likely benign not provided criteria provided, single submitter not provided

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