ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3080C>T (p.Pro1027Leu)

gnomAD frequency: 0.00054  dbSNP: rs140733978
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475908 SCV000541881 likely benign Neuroblastoma, susceptibility to, 3 2024-01-24 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257413 SCV002528454 likely benign Hereditary cancer-predisposing syndrome 2021-09-13 criteria provided, single submitter curation
GeneDx RCV002266923 SCV002549190 likely benign not provided 2023-07-09 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
CeGaT Center for Human Genetics Tuebingen RCV002266923 SCV004144025 benign not provided 2022-09-01 criteria provided, single submitter clinical testing ALK: BS1, BS2
Revvity Omics, Revvity Omics RCV002266923 SCV004238563 uncertain significance not provided 2022-04-01 criteria provided, single submitter clinical testing
ITMI RCV000119971 SCV000084101 not provided not specified 2013-09-19 no assertion provided reference population

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