ClinVar Miner

Submissions for variant NM_144687.3(NLRP12):c.1206C>G (p.Phe402Leu) (rs34971363)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000359423 SCV000414549 benign Familial cold autoinflammatory syndrome 2016-06-14 criteria provided, single submitter clinical testing
OMIM RCV000627082 SCV000747892 risk factor FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, SUSCEPTIBILITY TO 2018-05-15 no assertion criteria provided literature only
PreventionGenetics RCV000252320 SCV000316031 benign not specified criteria provided, single submitter clinical testing

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