ClinVar Miner

Submissions for variant NM_002529.4(NTRK1):c.7C>G (p.Arg3Gly)

gnomAD frequency: 0.00001  dbSNP: rs1655612729
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002542939 SCV003749829 uncertain significance Inborn genetic diseases 2022-06-24 criteria provided, single submitter clinical testing The c.7C>G (p.R3G) alteration is located in exon 1 (coding exon 1) of the NTRK1 gene. This alteration results from a C to G substitution at nucleotide position 7, causing the arginine (R) at amino acid position 3 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001279993 SCV001467134 uncertain significance Hereditary insensitivity to pain with anhidrosis 2020-04-17 no assertion criteria provided clinical testing

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