ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.4458_4466del (p.1485VKA[1])

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Lab, University of California San Francisco RCV004017186 SCV004847102 likely pathogenic Heterotaxy, visceral, 4, autosomal 2023-08-21 criteria provided, single submitter clinical testing

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