Submissions for variant NM_002529.4(NTRK1):c.287+12G>A

gnomAD frequency: 0.00138  dbSNP: rs202238126

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000317086	SCV000349037	likely benign	Hereditary insensitivity to pain with anhidrosis	2018-01-13	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.
GeneDx	RCV001668635	SCV001891119	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000317086	SCV002410626	benign	Hereditary insensitivity to pain with anhidrosis	2024-01-29	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000317086	SCV002804213	likely benign	Hereditary insensitivity to pain with anhidrosis	2022-05-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000317086	SCV004048639	benign	Hereditary insensitivity to pain with anhidrosis	2023-04-11	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001668635	SCV005262284	likely benign	not provided		criteria provided, single submitter	not provided