ClinVar Miner

Submissions for variant NM_004153.4(ORC1):c.1865T>C (p.Leu622Pro)

dbSNP: rs2147923128
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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 RCV001527357 SCV001738337 pathogenic Meier-Gorlin syndrome 1 criteria provided, single submitter research Homozygous

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