ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.359G>A (p.Ser120Asn)

gnomAD frequency: 0.00001  dbSNP: rs776403451
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002261983 SCV002542732 likely benign Autoinflammatory syndrome 2020-10-26 criteria provided, single submitter clinical testing

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