ClinVar Miner

Submissions for variant NM_017671.4(FERMT1):c.787C>T (p.Gln263Ter) (rs121918292)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000730517 SCV000858259 pathogenic not provided 2017-11-16 criteria provided, single submitter clinical testing
OMIM RCV000002833 SCV000022991 pathogenic Kindler's syndrome 2003-04-15 no assertion criteria provided literature only

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