Submissions for variant NM_004304.5(ALK):c.1283-5T>C

gnomAD frequency: 0.00012  dbSNP: rs377214413

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001088281	SCV000648605	likely benign	Neuroblastoma, susceptibility to, 3	2024-01-16	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000731880	SCV000859748	uncertain significance	not provided	2018-03-09	criteria provided, single submitter	clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	RCV001775059	SCV000891017	uncertain significance	Familial isolated pituitary adenoma	2021-08-04	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001088281	SCV001299632	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Sema4, Sema4	RCV002257821	SCV002528384	likely benign	Hereditary cancer-predisposing syndrome	2022-02-27	criteria provided, single submitter	curation
GeneDx	RCV000731880	SCV003803139	uncertain significance	not provided	2023-09-19	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this variant does not alter splicing
Ambry Genetics	RCV002257821	SCV005128028	likely benign	Hereditary cancer-predisposing syndrome	2024-03-20	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.