ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4955G>C (p.Cys1652Ser)

dbSNP: rs397515817
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, Region Ostergotland RCV003330176 SCV004037191 pathogenic Marfan syndrome 2023-09-21 criteria provided, single submitter clinical testing PM2, PM5, PP3_strong, PS2

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