ClinVar Miner

Submissions for variant NM_002506.3(NGF):c.219C>T (p.Asp73=)

gnomAD frequency: 0.00001  dbSNP: rs780383333
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002196652 SCV002494898 likely benign Congenital sensory neuropathy with selective loss of small myelinated fibers 2023-04-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004738557 SCV005350239 likely benign NGF-related disorder 2019-06-14 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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