ClinVar Miner

Submissions for variant NM_001080467.3(MYO5B):c.3163_3165dup (p.Leu1055dup)

gnomAD frequency: 0.31640  dbSNP: rs397841722
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000347080 SCV000408984 benign Diarrhea with Microvillus Atrophy 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455510 SCV000539852 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
Labcorp Genetics (formerly Invitae), Labcorp RCV001520707 SCV001729879 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001520707 SCV001858962 benign not provided 2018-11-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24014347, 28492530, 25111220)
Genome-Nilou Lab RCV001778916 SCV002015921 benign Congenital microvillous atrophy 2021-09-05 criteria provided, single submitter clinical testing
OMIM RCV001778916 SCV002520515 pathogenic Congenital microvillous atrophy 2022-05-20 no assertion criteria provided literature only

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