ClinVar Miner

Submissions for variant NM_021913.5(AXL):c.2493T>C (p.Pro831=)

gnomAD frequency: 0.00828  dbSNP: rs116041107
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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 RCV000883538 SCV001026850 benign not provided 2024-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000883538 SCV005307396 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003895417 SCV004722340 likely benign AXL-related disorder 2019-11-25 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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