ClinVar Miner

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

gnomAD frequency: 0.00004  dbSNP: rs746265117
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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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 RCV001452813 SCV001656486 likely benign Congenital contractural arachnodactyly 2023-06-10 criteria provided, single submitter clinical testing

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