ClinVar Miner

Submissions for variant NM_130900.3(RAET1L):c.284G>C (p.Arg95Thr)

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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 RCV004847093 SCV005485515 uncertain significance not specified 2024-12-04 criteria provided, single submitter clinical testing The c.284G>C (p.R95T) alteration is located in exon 2 (coding exon 2) of the RAET1L gene. This alteration results from a G to C substitution at nucleotide position 284, causing the arginine (R) at amino acid position 95 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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