ClinVar Miner

Submissions for variant NM_019594.4(LRRC8A):c.1606G>A (p.Val536Ile)

gnomAD frequency: 0.00102  dbSNP: rs138622041
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000896132 SCV001040209 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495422 SCV002800245 likely benign Agammaglobulinemia 5, autosomal dominant 2021-07-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002495422 SCV004564855 benign Agammaglobulinemia 5, autosomal dominant 2023-09-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003922868 SCV004740907 benign LRRC8A-related disorder 2020-05-22 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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