ClinVar Miner

Submissions for variant NM_130900.3(RAET1L):c.61G>T (p.Gly21Cys)

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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 RCV004847091 SCV005485512 uncertain significance not specified 2024-12-10 criteria provided, single submitter clinical testing The c.61G>T (p.G21C) alteration is located in exon 1 (coding exon 1) of the RAET1L gene. This alteration results from a G to T substitution at nucleotide position 61, causing the glycine (G) at amino acid position 21 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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