ClinVar Miner

Submissions for variant NM_002468.5(MYD88):c.270C>G (p.Leu90=)

gnomAD frequency: 0.00031  dbSNP: rs143752366
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000881324 SCV001024489 benign Pyogenic bacterial infections due to MyD88 deficiency 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003967990 SCV004778122 likely benign MYD88-related disorder 2019-08-16 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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