ClinVar Miner

Submissions for variant NM_014000.2(VCL):c.660C>T (p.Asn220=) (rs56264452)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620177 SCV000736483 likely benign Cardiovascular phenotype 2015-05-20 criteria provided, single submitter clinical testing
GeneDx RCV000038837 SCV000169789 benign not specified 2014-03-31 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 RCV000233302 SCV000289920 benign Dilated cardiomyopathy 1W 2018-01-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038837 SCV000062515 likely benign not specified 2015-05-06 criteria provided, single submitter clinical testing p.Asn220Asn in exon 6 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 with in the splice consensus sequence. It has been identified in 0.1% (76/66514) of E uropean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org; dbSNP rs56264452).

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