ClinVar Miner

Submissions for variant NM_002296.4(LBR):c.927C>T (p.Ile309=)

gnomAD frequency: 0.00037  dbSNP: rs143164834
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000950620 SCV000604094 benign not provided 2023-04-27 criteria provided, single submitter clinical testing
Invitae RCV000950620 SCV001096947 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000950620 SCV001794394 likely benign not provided 2021-07-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279291 SCV002566879 benign Connective tissue disorder 2021-06-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925502 SCV004746977 benign LBR-related condition 2019-09-24 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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