ClinVar Miner

Submissions for variant NM_032536.4(NTNG2):c.1425C>G (p.Cys475Trp)

gnomAD frequency: 0.00001  dbSNP: rs774924316
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV001310225 SCV001499836 uncertain significance Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia 2021-01-12 criteria provided, single submitter clinical testing

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