ClinVar Miner

Submissions for variant NM_005157.6(ABL1):c.2035T>G (p.Ser679Ala)

dbSNP: rs201278085
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002108224 SCV002398783 likely benign not provided 2025-01-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499984 SCV002811427 likely benign Chronic myelogenous leukemia, BCR-ABL1 positive; Congenital heart defects and skeletal malformations syndrome 2021-10-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002108224 SCV004156528 benign not provided 2024-11-01 criteria provided, single submitter clinical testing ABL1: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV002108224 SCV005225872 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004543799 SCV004770483 likely benign ABL1-related disorder 2022-06-01 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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