ClinVar Miner

Submissions for variant NM_014000.2(VCL):c.2142C>T (p.Asp714=) (rs373790383)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465519 SCV000559712 likely benign not provided 2019-01-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000599879 SCV000710974 likely benign not specified 2017-09-12 criteria provided, single submitter clinical testing p.Asp714Asp in Exon 16 of VCL: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence. It has been identified in 18/126488 European chr omosomes by the Genome Aggregation Database Project (gnomAD, http://gnomad.broad institute.org; dbSNP rs373790383).
GeneDx RCV000599879 SCV000729525 likely benign not specified 2017-08-03 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.

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