ClinVar Miner

Submissions for variant NM_002468.5(MYD88):c.80T>C (p.Met27Thr)

gnomAD frequency: 0.00372  dbSNP: rs201871349
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000891377 SCV001035193 benign Pyogenic bacterial infections due to MyD88 deficiency 2024-02-01 criteria provided, single submitter clinical testing
ITMI RCV000121611 SCV000085809 not provided not specified 2013-09-19 no assertion provided reference population
PreventionGenetics, part of Exact Sciences RCV003952611 SCV004772791 benign MYD88-related disorder 2021-02-15 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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