ClinVar Miner

Submissions for variant NM_173587.4(RCOR2):c.911C>T (p.Thr304Met)

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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 RCV004849809 SCV005492199 uncertain significance not specified 2024-09-08 criteria provided, single submitter clinical testing The c.911C>T (p.T304M) alteration is located in exon 9 (coding exon 9) of the RCOR2 gene. This alteration results from a C to T substitution at nucleotide position 911, causing the threonine (T) at amino acid position 304 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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