ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.1313G>A (p.Gly438Glu)

gnomAD frequency: 0.00004  dbSNP: rs751545674
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000553562 SCV000630183 benign Congenital contractural arachnodactyly 2022-11-22 criteria provided, single submitter clinical testing

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