ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.778C>G (p.Pro260Ala)

gnomAD frequency: 0.00001  dbSNP: rs774323549
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 RCV002539088 SCV001012235 likely benign Congenital contractural arachnodactyly 2023-09-04 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279582 SCV002565969 benign Ehlers-Danlos syndrome 2018-10-01 criteria provided, single submitter clinical testing

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