ClinVar Miner

Submissions for variant NM_002529.4(NTRK1):c.824A>C (p.Glu275Ala)

gnomAD frequency: 0.00008  dbSNP: rs138533001
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 RCV000875061 SCV001017330 likely benign Hereditary insensitivity to pain with anhidrosis 2024-12-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV000875061 SCV001459287 uncertain significance Hereditary insensitivity to pain with anhidrosis 2020-04-17 no assertion criteria provided clinical testing

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