ClinVar Miner

Submissions for variant NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser) (rs543320028)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986439 SCV001135440 likely pathogenic Hereditary insensitivity to pain with anhidrosis 2019-05-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV000986439 SCV001520942 uncertain significance Hereditary insensitivity to pain with anhidrosis 2020-03-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Inherited Neuropathy Consortium RCV000789505 SCV000928861 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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