ClinVar Miner

Submissions for variant NM_002296.4(LBR):c.995C>T (p.Ala332Val)

gnomAD frequency: 0.00293  dbSNP: rs141647564
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000712173 SCV000842603 benign not provided 2018-04-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000712173 SCV001108995 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000712173 SCV001157018 likely benign not provided 2024-10-16 criteria provided, single submitter clinical testing
GeneDx RCV000712173 SCV001805012 likely benign not provided 2023-11-14 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
PreventionGenetics, part of Exact Sciences RCV004544958 SCV004788259 benign LBR-related disorder 2019-03-21 no assertion criteria provided 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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