ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.4341del (p.Tyr1448fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003233377 SCV003932186 likely pathogenic Lymphatic malformation 6 2023-03-08 criteria provided, single submitter clinical testing PVS1, PM2

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