ClinVar Miner

Submissions for variant NM_001042545.2(LTBP4):c.3850dup (p.Cys1284fs)

dbSNP: rs1599879104
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985144 SCV001133133 likely pathogenic Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 2019-09-26 no assertion criteria provided clinical testing

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