ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.7541G>A (p.Gly2514Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003885410 SCV004698075 likely pathogenic Marfan syndrome 2024-02-05 criteria provided, single submitter clinical testing Criteria applied: PM1,PM5,PS4_SUP,PM2_SUP,PP3
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004697323 SCV005197870 likely pathogenic not provided 2024-01-24 criteria provided, single submitter clinical testing

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