ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.3595G>A (p.Val1199Met)

gnomAD frequency: 0.00048  dbSNP: rs146997253
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 RCV000633625 SCV000754874 benign Congenital contractural arachnodactyly 2022-02-18 criteria provided, single submitter clinical testing

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