ClinVar Miner

Submissions for variant NM_002529.4(NTRK1):c.65T>A (p.Leu22Gln)

gnomAD frequency: 0.00002  dbSNP: rs748402400
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000525243 SCV000626976 likely benign Hereditary insensitivity to pain with anhidrosis 2023-12-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV000525243 SCV001455163 uncertain significance Hereditary insensitivity to pain with anhidrosis 2020-04-17 no assertion criteria provided clinical testing

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