ClinVar Miner

Submissions for variant NM_001136191.3(KANK2):c.1519G>A (p.Gly507Arg)

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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 RCV002922506 SCV003263167 benign not provided 2023-09-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004067006 SCV003706277 uncertain significance not specified 2022-06-29 criteria provided, single submitter clinical testing The c.1543G>A (p.G515R) alteration is located in exon 4 (coding exon 4) of the KANK2 gene. This alteration results from a G to A substitution at nucleotide position 1543, causing the glycine (G) at amino acid position 515 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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