ClinVar Miner

Submissions for variant NM_004793.4(LONP1):c.1321G>A (p.Glu441Lys)

dbSNP: rs745742429
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001027667 SCV001190229 likely pathogenic CODAS syndrome 2019-05-27 criteria provided, single submitter clinical testing
Invitae RCV001862414 SCV002201737 likely benign not provided 2024-01-17 criteria provided, single submitter clinical testing

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