ClinVar Miner

Submissions for variant NM_001348768.2(HECW2):c.4334A>G (p.Glu1445Gly) (rs878854424)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network,NIH RCV000415531 SCV000746571 uncertain significance Neurodevelopmental disorder with hypotonia, seizures, and absent language 2018-03-07 criteria provided, single submitter clinical testing
OMIM RCV000415531 SCV000494009 pathogenic Neurodevelopmental disorder with hypotonia, seizures, and absent language 2018-01-10 no assertion criteria provided literature only
GenomeConnect, ClinGen RCV000509485 SCV000607206 not provided not provided no assertion provided phenotyping only 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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