ClinVar Miner

Submissions for variant NM_004750.5(CRLF1):c.676dup (p.Thr226fs)

gnomAD frequency: 0.00001  dbSNP: rs761746361
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV000006061 SCV005655210 pathogenic Cold-induced sweating syndrome 1 2024-01-05 criteria provided, single submitter clinical testing
OMIM RCV000006061 SCV000026243 pathogenic Cold-induced sweating syndrome 1 2007-05-01 no assertion criteria provided literature only
GeneReviews RCV000006061 SCV001806772 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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