ClinVar Miner

Submissions for variant NM_005157.6(ABL1):c.2117G>T (p.Gly706Val)

gnomAD frequency: 0.00014  dbSNP: rs34634745
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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 RCV000897438 SCV001041583 likely benign not provided 2024-07-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487964 SCV002802644 likely benign Chronic myelogenous leukemia, BCR-ABL1 positive; Congenital heart defects and skeletal malformations syndrome 2021-08-20 criteria provided, single submitter clinical testing

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