ClinVar Miner

Submissions for variant NM_032447.5(FBN3):c.6022C>T (p.Arg2008Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003080150 SCV003480885 likely benign not provided 2024-11-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004073169 SCV003751693 uncertain significance not specified 2022-12-05 criteria provided, single submitter clinical testing The c.6022C>T (p.R2008C) alteration is located in exon 47 (coding exon 47) of the FBN3 gene. This alteration results from a C to T substitution at nucleotide position 6022, causing the arginine (R) at amino acid position 2008 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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