ClinVar Miner

Submissions for variant NM_032447.5(FBN3):c.764C>T (p.Pro255Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004231960 SCV003729118 uncertain significance not specified 2022-01-19 criteria provided, single submitter clinical testing The c.764C>T (p.P255L) alteration is located in exon 7 (coding exon 7) of the FBN3 gene. This alteration results from a C to T substitution at nucleotide position 764, causing the proline (P) at amino acid position 255 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005099110 SCV005846690 likely benign not provided 2024-04-25 criteria provided, single submitter clinical testing

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