ClinVar Miner

Submissions for variant NM_002529.4(NTRK1):c.808G>A (p.Asp270Asn)

gnomAD frequency: 0.00003  dbSNP: rs145222195
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000823933 SCV000964808 likely benign Hereditary insensitivity to pain with anhidrosis 2023-12-12 criteria provided, single submitter clinical testing
GeneDx RCV002307632 SCV002601268 uncertain significance not provided 2022-05-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV000823933 SCV002086535 uncertain significance Hereditary insensitivity to pain with anhidrosis 2020-10-23 no assertion criteria provided clinical testing

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