ClinVar Miner

Submissions for variant NM_006486.3(FBLN1):c.544+16C>G

gnomAD frequency: 0.15674  dbSNP: rs6006768
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001667723 SCV001886978 benign not provided 2018-11-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001667723 SCV002409020 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001667723 SCV005274257 benign not provided criteria provided, single submitter not provided

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