ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.753del (p.Trp252fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV004596042 SCV005091043 likely pathogenic Thrombocytopenia 1 2023-11-08 criteria provided, single submitter clinical testing PVS1, PM2 - The variant is expected to result in an absent or disrupted protein product. Low frequency in gnomAD population databases.

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