ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.1035G>A (p.Thr345=)

gnomAD frequency: 0.00001  dbSNP: rs770310990
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001311906 SCV001502272 likely benign not provided 2020-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002543582 SCV003460615 likely benign Familial cold autoinflammatory syndrome 2 2024-10-16 criteria provided, single submitter clinical testing

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