ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3837-9_3837-7dup

gnomAD frequency: 0.00279  dbSNP: rs373764155
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000232858 SCV000288352 benign Neuroblastoma, susceptibility to, 3 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001697260 SCV000569805 likely benign not provided 2023-05-16 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Eurofins Ntd Llc (ga) RCV000484508 SCV000859937 benign not specified 2018-03-09 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV000761110 SCV000891025 likely benign Familial isolated pituitary adenoma 2021-05-20 criteria provided, single submitter clinical testing The ALK c.3837-9_3837-7dup splice region change has a maximum subpopulation frequency of 0.97% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/variant/2-29430144-G-GGGA?dataset=gnomad_r2_1). This population frequency exceeds the expected prevalence of a pathogenic variant causing ALK-related neuroblastic tumor susceptibility (BS1). In silico tools predict that this variant does not impact splicing (BP4). This variant been reported in >5 individuals without a personal or family history consistent with ALK-related neuroblastic tumor susceptibility (internal data). In summary, this variant meets criteria to be classified as likely benign based on the ACMG/AMP criteria: BS1, BP4.
Sema4, Sema4 RCV002257560 SCV002528492 benign Hereditary cancer-predisposing syndrome 2020-09-17 criteria provided, single submitter curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000484508 SCV004038133 benign not specified 2023-08-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000484508 SCV003839559 likely benign not specified 2022-06-20 no assertion criteria provided clinical testing

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