ClinVar Miner

Submissions for variant NM_004750.5(CRLF1):c.713dup (p.Pro239fs) (rs768727082)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV000195773 SCV000255353 pathogenic Cold-induced sweating syndrome 1 2014-02-11 criteria provided, single submitter clinical testing
OMIM RCV000195773 SCV000026246 pathogenic Cold-induced sweating syndrome 1 2007-05-01 no assertion criteria provided literature only

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