ClinVar Miner

Submissions for variant NM_014000.2(VCL):c.1788A>C (p.Ser596=) (rs199582103)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038805 SCV000062483 likely benign not specified 2010-09-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590084 SCV000699355 benign not provided 2017-05-30 criteria provided, single submitter clinical testing Variant summary: The c.1788A>C (p.Ser596=) in VCL gene is a synonymous change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not have a major effect on a normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in control population dataset of ExAC at a frequency of 0.0001648 (20/121354 chrs tested). This frequency exceeds the estimated maximal expected allele frequency of a pathogenic variant in VCL gene (0.000025). The variant has not been reported in affected individuals, but is cited as Likely Benign by a reputable database/diagnostic center. Taking together, the variant was classified as Benign.
Invitae RCV000590084 SCV000767076 benign not provided 2018-11-30 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000590084 SCV001147978 likely benign not provided 2018-10-01 criteria provided, single submitter clinical testing

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