ClinVar Miner

Submissions for variant NM_000452.3(SLC10A2):c.868C>T (p.Pro290Ser) (rs56398830)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000416197 SCV000493323 uncertain significance not provided 2016-08-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000454501 SCV000540354 likely benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in 1000Genomes: 22/2178=1%
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000454501 SCV000706298 benign not specified 2017-02-10 criteria provided, single submitter clinical testing
Invitae RCV000416197 SCV001097491 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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