ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.1711-20T>G

gnomAD frequency: 0.07408  dbSNP: rs58869180
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245331 SCV000316121 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000245331 SCV000516384 benign not specified 2016-08-01 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002058416 SCV002440497 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717129 SCV005304772 benign not provided criteria provided, single submitter not provided

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