ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.9959C>T (p.Ala3320Val) (rs1555411305)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000503154 SCV000594447 likely pathogenic Mental retardation, autosomal dominant 13 2016-06-28 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509451 SCV000607330 not provided DYNC1H1-related disorders 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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