ClinVar Miner

Submissions for variant NM_001378328.1(CELSR1):c.5512C>T (p.Arg1838Ter)

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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 RCV004017204 SCV004847150 likely pathogenic Lymphatic malformation 9 2023-07-06 criteria provided, single submitter clinical testing

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