ClinVar Miner

Submissions for variant NM_014000.2(VCL):c.1572C>T (p.Ala524=) (rs138566234)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000038800 SCV000515244 likely benign not specified 2018-03-13 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 RCV000547966 SCV000645843 benign Dilated cardiomyopathy 1W 2017-11-20 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038800 SCV000062478 likely benign not specified 2012-02-07 criteria provided, single submitter clinical testing Ala524Ala in exon 12 of VCL: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue, is not located within t he splice consensus sequence, and has been identified in 0.1% (5/3738) of Africa n American chromosomes by the NHLBI Exome Sequencing Project in a broad populati on (; dbSNP rs138566234). Ala524Ala in exon 12 of VCL (rs138566234; allele frequency = 0.1%, 5/3738) **

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