ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.6505C>T (p.Arg2169Cys)

gnomAD frequency: 0.00003  dbSNP: rs1450302477
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 RCV000633585 SCV000754831 benign Congenital contractural arachnodactyly 2022-08-31 criteria provided, single submitter clinical testing

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