ClinVar Miner

Submissions for variant NM_001005463.3(EBF3):c.806del (p.Gly269fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000844952 SCV000986777 not provided Hypotonia, ataxia, and delayed development syndrome no assertion provided phenotyping only Variant interpretted as Likely pathogenic and reported on 12/22/2017 by GTR ID Children's Hospital of Philadelphia. 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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