ClinVar Miner

Submissions for variant NM_004750.5(CRLF1):c.226T>G (p.Trp76Gly)

dbSNP: rs137853143
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000006062 SCV000026244 pathogenic Cold-induced sweating syndrome 1 2007-05-01 no assertion criteria provided literature only
GeneReviews RCV000006062 SCV001806771 not provided Cold-induced sweating syndrome 1 no assertion provided literature only Founder variant in Sardinia, the variants c.226T>G and c.676dupA together are the most common in Sardinia, with a joint carrier frequency of 1.4%.

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