ClinVar Miner

Submissions for variant NM_138348.6(OTULIN):c.553G>T (p.Val185Phe)

dbSNP: rs867617260
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001328574 SCV001519722 uncertain significance Infantile-onset periodic fever-panniculitis-dermatosis syndrome 2020-05-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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