ClinVar Miner

Submissions for variant NM_006486.3(FBLN1):c.1190G>T (p.Cys397Phe) (rs397509432)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Neuroscience, King Faisal Specialist Hospital RCV000054444 SCV000082921 pathogenic Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects 2012-07-20 no assertion criteria provided research Converted during submission to Pathogenic.
OMIM RCV000128616 SCV000172250 uncertain significance not provided 2014-05-01 no assertion criteria provided literature only

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