ClinVar Miner

Submissions for variant NM_005157.6(ABL1):c.822+16C>G

gnomAD frequency: 0.00309  dbSNP: rs12551730
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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 RCV002115716 SCV002410414 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500021 SCV002809306 likely benign Chronic myelogenous leukemia, BCR-ABL1 positive; Congenital heart defects and skeletal malformations syndrome 2022-04-06 criteria provided, single submitter clinical testing

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