ClinVar Miner

Submissions for variant NM_002468.5(MYD88):c.604A>C (p.Thr202Pro)

gnomAD frequency: 0.00029  dbSNP: rs191826554
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000543135 SCV000646973 benign Pyogenic bacterial infections due to MyD88 deficiency 2023-12-30 criteria provided, single submitter clinical testing

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