ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.2127C>A (p.Asn709Lys)

gnomAD frequency: 0.00003  dbSNP: rs376175333
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000463314 SCV000429953 benign Neuroblastoma, susceptibility to, 3 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000463314 SCV000554732 benign Neuroblastoma, susceptibility to, 3 2024-01-18 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255290 SCV002528415 likely benign Hereditary cancer-predisposing syndrome 2021-02-18 criteria provided, single submitter curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000463314 SCV004016354 benign Neuroblastoma, susceptibility to, 3 2023-07-07 criteria provided, single submitter clinical testing
ITMI RCV000119967 SCV000084097 not provided not specified 2013-09-19 no assertion provided reference population

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