ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.7719C>T (p.Asn2573=) (rs746265117)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000866183 SCV000727835 likely benign not provided 2020-09-23 criteria provided, single submitter clinical testing
Invitae RCV000866183 SCV001007245 likely benign not provided 2018-08-09 criteria provided, single submitter clinical testing
Invitae RCV001452813 SCV001656486 likely benign Congenital contractural arachnodactyly 2018-07-30 criteria provided, single submitter clinical testing

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