ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.1412-322G>A

dbSNP: rs2047747647
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neurogenetics Research Program, University of Adelaide RCV001194622 SCV001338855 pathogenic Simpson-Golabi-Behmel syndrome type 2 2020-01-29 criteria provided, single submitter research

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