ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.6801C>T (p.Asn2267=) (rs886051245)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000283843 SCV000913621 likely benign Thoracic aortic aneurysm and aortic dissection 2018-07-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000283843 SCV000392188 uncertain significance Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000338852 SCV000392189 uncertain significance Ectopia lentis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000396161 SCV000392190 uncertain significance Marfan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000298102 SCV000392191 uncertain significance Acromicric dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000353034 SCV000392192 uncertain significance Geleophysic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000398246 SCV000392193 uncertain significance Stiff skin syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000313336 SCV000392194 uncertain significance MASS syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000368091 SCV000392195 uncertain significance Weill-Marchesani syndrome 2016-06-14 criteria provided, single submitter clinical testing

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