ClinVar Miner

Submissions for variant NM_002506.3(NGF):c.393C>T (p.Gly131=)

gnomAD frequency: 0.00006  dbSNP: rs778162180
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434201 SCV000526778 likely benign not specified 2016-04-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000527399 SCV000626993 likely benign Congenital sensory neuropathy with selective loss of small myelinated fibers 2023-05-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000527399 SCV004050720 likely benign Congenital sensory neuropathy with selective loss of small myelinated fibers 2023-04-11 criteria provided, single submitter clinical testing

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