ClinVar Miner

Submissions for variant NM_017671.4(FERMT1):c.862C>T (p.Arg288Ter) (rs121918294)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000002837 SCV000265623 pathogenic Kindler's syndrome 2016-01-07 no assertion criteria provided literature only
OMIM RCV000002837 SCV000022995 pathogenic Kindler's syndrome 2003-07-01 no assertion criteria provided literature only

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