ClinVar Miner

Submissions for variant NM_002529.4(NTRK1):c.954T>C (p.Asn318=)

gnomAD frequency: 0.00003  dbSNP: rs769539870
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 RCV000872536 SCV001014362 likely benign Hereditary insensitivity to pain with anhidrosis 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000872536 SCV001459291 uncertain significance Hereditary insensitivity to pain with anhidrosis 2020-01-24 no assertion criteria provided clinical testing

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