ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.2718-19G>A

gnomAD frequency: 0.00013  dbSNP: rs202059016
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002562278 SCV002355671 likely benign Blau syndrome; Regional enteritis 2024-01-26 criteria provided, single submitter clinical testing

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