ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.2121G>A (p.Ala707=)

gnomAD frequency: 0.00002  dbSNP: rs375229272
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000645662 SCV000767413 likely benign Familial cold autoinflammatory syndrome 2 2024-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704160 SCV005205956 likely benign not provided criteria provided, single submitter not provided

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