ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.1400T>C (p.Phe467Ser)

gnomAD frequency: 0.00004  dbSNP: rs779849582
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001979586 SCV002250374 benign Congenital contractural arachnodactyly 2022-12-06 criteria provided, single submitter clinical testing
AiLife Diagnostics, AiLife Diagnostics RCV002224128 SCV002502526 uncertain significance not provided 2021-12-03 criteria provided, single submitter clinical testing

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