ClinVar Miner

Submissions for variant NM_130900.3(RAET1L):c.84C>G (p.Asp28Glu)

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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 RCV004665315 SCV005163537 uncertain significance not specified 2024-04-12 criteria provided, single submitter clinical testing The c.84C>G (p.D28E) alteration is located in exon 1 (coding exon 1) of the RAET1L gene. This alteration results from a C to G substitution at nucleotide position 84, causing the aspartic acid (D) at amino acid position 28 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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