ClinVar Miner

Submissions for variant NM_002506.3(NGF):c.661C>T (p.Arg221Trp)

gnomAD frequency: 0.00001  dbSNP: rs11466112
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003989104 SCV004805643 likely pathogenic not specified 2024-03-14 criteria provided, single submitter clinical testing
OMIM RCV000015089 SCV000035346 pathogenic Congenital sensory neuropathy with selective loss of small myelinated fibers 2011-02-01 no assertion criteria provided literature only

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