ClinVar Miner

Submissions for variant NM_002529.4(NTRK1):c.1597C>T (p.Leu533=)

gnomAD frequency: 0.00001  dbSNP: rs760564817
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 RCV000904534 SCV001049056 benign Hereditary insensitivity to pain with anhidrosis 2024-01-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV000904534 SCV001463401 uncertain significance Hereditary insensitivity to pain with anhidrosis 2020-03-11 no assertion criteria provided clinical testing

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