ClinVar Miner

Submissions for variant NM_002529.4(NTRK1):c.1647G>A (p.Ala549=)

gnomAD frequency: 0.00001  dbSNP: rs771010259
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 RCV000952483 SCV001098992 likely benign Hereditary insensitivity to pain with anhidrosis 2023-12-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV000952483 SCV001463402 uncertain significance Hereditary insensitivity to pain with anhidrosis 2020-02-13 no assertion criteria provided clinical testing

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