ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.371-4C>T

gnomAD frequency: 0.00001  dbSNP: rs575320793
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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 RCV001521348 SCV001730677 benign Familial cold autoinflammatory syndrome 2 2022-12-22 criteria provided, single submitter clinical testing

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