ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.882C>G (p.Asp294Glu)

dbSNP: rs147080557
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000627080 SCV004040675 pathogenic Familial cold autoinflammatory syndrome 2 2023-07-10 criteria provided, single submitter clinical testing
OMIM RCV000627080 SCV000747890 pathogenic Familial cold autoinflammatory syndrome 2 2018-05-15 no assertion criteria provided literature only

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