ClinVar Miner

Submissions for variant NM_005157.6(ABL1):c.295T>C (p.Trp99Arg)

dbSNP: rs1830947813
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Daryl Scott Lab, Baylor College of Medicine RCV001269278 SCV001448618 likely pathogenic Congenital heart defects and skeletal malformations syndrome 2020-11-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV001269278 SCV001522039 likely pathogenic Congenital heart defects and skeletal malformations syndrome 2019-01-20 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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