ClinVar Miner

Submissions for variant NM_014813.3(LRIG2):c.3088G>A (p.Gly1030Arg)

gnomAD frequency: 0.00129  dbSNP: rs61751735
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000905749 SCV001050344 likely benign not provided 2018-11-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000905749 SCV005259294 likely benign not provided criteria provided, single submitter not provided
Ambry Genetics RCV004935173 SCV005610481 uncertain significance not specified 2024-11-27 criteria provided, single submitter clinical testing The c.3088G>A (p.G1030R) alteration is located in exon 18 (coding exon 18) of the LRIG2 gene. This alteration results from a G to A substitution at nucleotide position 3088, causing the glycine (G) at amino acid position 1030 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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