ClinVar Miner

Submissions for variant NM_183381.3(RNF13):c.43G>A (p.Val15Ile)

gnomAD frequency: 0.00004  dbSNP: rs140665765
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002021554 SCV002315550 benign not provided 2023-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004671625 SCV005156472 uncertain significance not specified 2024-04-06 criteria provided, single submitter clinical testing The c.43G>A (p.V15I) alteration is located in exon 3 (coding exon 1) of the RNF13 gene. This alteration results from a G to A substitution at nucleotide position 43, causing the valine (V) at amino acid position 15 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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