ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.4550C>A (p.Ala1517Asp)

dbSNP: rs372940610
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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 Inherited Metabolic Diseases, Research centre for medical genetics RCV002238710 SCV002512053 likely pathogenic Larsen syndrome 2022-04-01 criteria provided, single submitter clinical testing

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