ClinVar Miner

Submissions for variant NM_005157.6(ABL1):c.2116G>A (p.Gly706Ser)

gnomAD frequency: 0.00176  dbSNP: rs143837301
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000906214 SCV001050837 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
ITMI RCV000119949 SCV000084079 not provided not specified 2013-09-19 no assertion provided reference population
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000119949 SCV001800608 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000906214 SCV001968915 likely benign not provided no assertion criteria provided clinical testing

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