ClinVar Miner

Submissions for variant NM_182895.5(SCARF2):c.2240dup (p.Gly749fs)

dbSNP: rs5844420
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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, Mass General Brigham Personalized Medicine RCV000454947 SCV000540263 benign not specified 2016-03-29 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: 2105/2178=96.64%
Labcorp Genetics (formerly Invitae), Labcorp RCV001579472 SCV002482454 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000454947 SCV001743358 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579472 SCV001807390 likely benign not provided no assertion criteria provided clinical testing

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