ClinVar Miner

Submissions for variant NM_032322.4(RNF135):c.124C>T (p.Arg42Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004183847 SCV003682268 uncertain significance not specified 2022-06-10 criteria provided, single submitter clinical testing The c.124C>T (p.R42C) alteration is located in exon 1 (coding exon 1) of the RNF135 gene. This alteration results from a C to T substitution at nucleotide position 124, causing the arginine (R) at amino acid position 42 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003427631 SCV004142524 benign not provided 2023-02-01 criteria provided, single submitter clinical testing RNF135: BS1, BS2

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