ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.7776_7819+37delinsTAGCT

dbSNP: rs2141220506
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Provincial Medical Genetics Program of British Columbia, University of British Columbia RCV002074483 SCV002320782 likely pathogenic Marfan syndrome 2022-01-01 criteria provided, single submitter clinical testing

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