ClinVar Miner

Submissions for variant NM_017671.4(FERMT1):c.811C>T (p.Arg271Ter) (rs121918293)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000002836 SCV000891502 pathogenic Kindler's syndrome 2017-12-30 no assertion criteria provided curation
GeneReviews RCV000002836 SCV000265622 pathogenic Kindler's syndrome 2016-01-07 no assertion criteria provided literature only
OMIM RCV000002836 SCV000022994 pathogenic Kindler's syndrome 2003-07-01 no assertion criteria provided literature only

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