ClinVar Miner

Submissions for variant NM_005157.6(ABL1):c.2459G>A (p.Arg820Gln)

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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 RCV002767972 SCV003583710 uncertain significance Inborn genetic diseases 2021-09-15 criteria provided, single submitter clinical testing The c.2516G>A (p.R839Q) alteration is located in exon 11 (coding exon 11) of the ABL1 gene. This alteration results from a G to A substitution at nucleotide position 2516, causing the arginine (R) at amino acid position 839 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005099630 SCV005730880 likely benign not provided 2024-06-24 criteria provided, single submitter clinical testing

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