ClinVar Miner

Submissions for variant NM_001085458.2(CTNND1):c.1837C>T (p.Pro613Ser)

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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 RCV003256896 SCV003975031 uncertain significance Inborn genetic diseases 2023-04-04 criteria provided, single submitter clinical testing The c.1837C>T (p.P613S) alteration is located in exon 10 (coding exon 8) of the CTNND1 gene. This alteration results from a C to T substitution at nucleotide position 1837, causing the proline (P) at amino acid position 613 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003492852 SCV004234252 uncertain significance Blepharocheilodontic syndrome 2 2023-05-08 criteria provided, single submitter clinical testing

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