ClinVar Miner

Submissions for variant NM_002529.4(NTRK1):c.1939G>T (p.Val647Leu)

gnomAD frequency: 0.00005  dbSNP: rs142870382
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000685871 SCV000813371 likely benign Hereditary insensitivity to pain with anhidrosis 2024-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002406534 SCV002717421 uncertain significance Inborn genetic diseases 2023-05-16 criteria provided, single submitter clinical testing The c.1921G>T (p.V641L) alteration is located in exon 14 (coding exon 14) of the NTRK1 gene. This alteration results from a G to T substitution at nucleotide position 1921, causing the valine (V) at amino acid position 641 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003884703 SCV004700966 uncertain significance not provided 2024-02-01 criteria provided, single submitter clinical testing NTRK1: PM2, PP3
Natera, Inc. RCV000685871 SCV001463409 uncertain significance Hereditary insensitivity to pain with anhidrosis 2020-04-18 no assertion criteria provided clinical testing

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