ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.1571del (p.Thr524fs) (rs886038817)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000251739 SCV000318121 pathogenic Cardiovascular phenotype 2012-12-14 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Center for Medical Genetics Ghent,University of Ghent RCV000663469 SCV000786765 likely pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing
GenomeConnect, ClinGen RCV000663469 SCV000986795 not provided Marfan syndrome no assertion provided phenotyping only Variant interpretted as pathogenic and reported on 04/18/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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