ClinVar Miner

Submissions for variant NM_004153.4(ORC1):c.2314G>A (p.Val772Ile) (rs61753389)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000356648 SCV000358066 uncertain significance Meier-Gorlin syndrome 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000501625 SCV000596168 benign not specified 2017-04-19 criteria provided, single submitter clinical testing
Invitae RCV000870938 SCV001012514 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509535 SCV000607092 not provided Meier-Gorlin syndrome 1 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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