ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1402A>G (p.Thr468Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Health Biotechnology Lab, Department of Biotechnology,Abdul Wali Khan University Mardan RCV001253825 SCV001334241 likely pathogenic Marfan syndrome; Left ventricular diastolic dysfunction 2020-12-05 criteria provided, single submitter research novel variant

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