ClinVar Miner

Submissions for variant NM_002529.4(NTRK1):c.2047-6T>C

gnomAD frequency: 0.00001  dbSNP: rs762866535
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438099 SCV000523581 likely benign not specified 2016-01-29 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000631339 SCV000752371 likely benign Hereditary insensitivity to pain with anhidrosis 2023-09-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000631339 SCV004048765 likely benign Hereditary insensitivity to pain with anhidrosis 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000631339 SCV001463411 uncertain significance Hereditary insensitivity to pain with anhidrosis 2020-01-24 no assertion criteria provided clinical testing

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