ClinVar Miner

Submissions for variant NM_173587.4(RCOR2):c.1223C>A (p.Pro408Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV005259901 SCV005929900 uncertain significance not specified 2025-02-01 criteria provided, single submitter clinical testing The c.1223C>A (p.P408Q) alteration is located in exon 11 (coding exon 11) of the RCOR2 gene. This alteration results from a C to A substitution at nucleotide position 1223, causing the proline (P) at amino acid position 408 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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