ClinVar Miner

Submissions for variant NM_130900.3(RAET1L):c.87C>A (p.Asp29Glu)

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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 RCV005263826 SCV005927753 uncertain significance not specified 2025-01-09 criteria provided, single submitter clinical testing The c.87C>A (p.D29E) alteration is located in exon 2 (coding exon 2) of the RAET1L gene. This alteration results from a C to A substitution at nucleotide position 87, causing the aspartic acid (D) at amino acid position 29 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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