ClinVar Miner

Submissions for variant NM_001007792.1(NTRK1):c.978C>T (p.Asn326=) (rs145823996)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432784 SCV000525816 likely benign not specified 2018-01-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001086612 SCV000752376 likely benign Hereditary insensitivity to pain with anhidrosis 2020-12-03 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000631344 SCV001144784 likely benign not provided 2018-10-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001086612 SCV001256170 uncertain significance Hereditary insensitivity to pain with anhidrosis 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001086612 SCV001472906 likely benign Hereditary insensitivity to pain with anhidrosis 2020-04-21 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000631344 SCV001500851 likely benign not provided 2021-01-01 criteria provided, single submitter clinical testing

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