ClinVar Miner

Submissions for variant NM_015047.3(EMC1):c.2087G>A (p.Trp696Ter) (rs1558096194)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760574 SCV000890465 pathogenic not provided 2018-06-04 criteria provided, single submitter clinical testing The W696X variant in the EMC1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The W696X variant is not observed in large population cohorts (Lek et al., 2016). We interpret W696X as a pathogenic variant.
GenomeConnect, ClinGen RCV000845001 SCV000986831 not provided EMC1-Related Disorder no assertion provided phenotyping only Variant interpretted as pathogenic and reported on 06/18/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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