ClinVar Miner

Submissions for variant NM_032447.5(FBN3):c.5054A>G (p.Asn1685Ser)

gnomAD frequency: 0.00292  dbSNP: rs61729609
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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 RCV000904386 SCV001048900 likely benign not provided 2024-11-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003968296 SCV004776685 benign FBN3-related disorder 2020-02-17 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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