ClinVar Miner

Submissions for variant NM_014000.2(VCL):c.3066C>T (p.Ile1022=) (rs138619320)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000038821 SCV000721718 likely benign not specified 2017-08-04 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.
Invitae RCV000527859 SCV000645864 likely benign Dilated cardiomyopathy 1W 2017-06-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038821 SCV000062499 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Ile1022Ile in exon 20 of VCL: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, and is not located wit hin the splice consensus sequence. It has been identified in 1/3738 African Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS; dbSNP rs138619320). Ile1022Ile in exon 20 of VCL (rs138619320; allele frequency= 1/3738) **

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