ClinVar Miner

Submissions for variant NM_014321.4(ORC6):c.65G>A (p.Arg22Lys)

dbSNP: rs2143010039
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bicknell laboratory, University of Otago RCV001527366 SCV001738346 pathogenic Meier-Gorlin syndrome 3 criteria provided, single submitter research Homozygous

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