ClinVar Miner

Submissions for variant NM_002529.4(NTRK1):c.429-3del

dbSNP: rs766806139
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001462685 SCV001666610 likely benign Hereditary insensitivity to pain with anhidrosis 2023-12-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002329536 SCV002629578 uncertain significance Inborn genetic diseases 2021-12-13 criteria provided, single submitter clinical testing The c.429-3delC intronic variant, located in intron 4 of the NTRK1 gene, results from a deletion of one nucleotide within intron 4 of the NTRK1 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003326576 SCV004032980 uncertain significance not provided 2023-07-01 criteria provided, single submitter clinical testing NTRK1: PM2, BP4

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