ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7913C>T (p.Pro2638Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002466917 SCV002761819 uncertain significance Frontometaphyseal dysplasia 1 2021-01-25 criteria provided, single submitter clinical testing

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