ClinVar Miner

Submissions for variant NM_004782.4(SNAP29):c.487dup (p.Ser163fs) (rs387907363)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727658 SCV000854962 pathogenic not provided 2017-10-25 criteria provided, single submitter clinical testing
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences RCV000043503 SCV001451949 pathogenic CEDNIK syndrome criteria provided, single submitter research
OMIM RCV000043503 SCV000067347 pathogenic CEDNIK syndrome 2011-03-01 no assertion criteria provided literature only
GeneDx RCV000727658 SCV001796371 pathogenic not provided 2019-11-05 no assertion criteria provided clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Published functional studies demonstrate that the variant results in the generation of a truncated protein and loss of distribution pattern in Golgi-associated proteins (Fuchs-Telem et al., 2011); This variant is associated with the following publications: (PMID: 25958742, 21073448, 28388629)

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