ClinVar Miner

Submissions for variant NM_021008.3(DEAF1):c.676C>T (p.Arg226Trp) (rs587777623)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622720 SCV000740785 likely pathogenic Inborn genetic diseases 2014-12-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected
Baylor Miraca Genetics Laboratories, RCV000515525 SCV000590954 likely pathogenic Dyskinesia, seizures, and intellectual developmental disorder 2017-05-04 criteria provided, single submitter clinical testing This missense variant has been reported in 2 unrelated families and observed once in our laboratory homozygous in a 2-year-old male with developmental delay, hypotonia, microcephaly, failure to thrive, and a family history of a similar disorder. This individual was included in one of the reports (PMID: 24668509).
OMIM RCV000133504 SCV000188578 uncertain significance not provided 2014-06-01 no assertion criteria provided literature only

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