ClinVar Miner

Submissions for variant NM_130900.3(RAET1L):c.361C>G (p.Leu121Val)

dbSNP: rs1285244129
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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 RCV004268633 SCV003887253 uncertain significance not specified 2023-01-06 criteria provided, single submitter clinical testing The c.361C>G (p.L121V) alteration is located in exon 3 (coding exon 3) of the RAET1L gene. This alteration results from a C to G substitution at nucleotide position 361, causing the leucine (L) at amino acid position 121 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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