ClinVar Miner

Submissions for variant NM_020336.4(RALGAPB):c.2324G>T (p.Arg775Leu)

dbSNP: rs758022116
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Shaikh Laboratory, University of Colorado RCV000509009 SCV000536684 likely pathogenic Septo-optic dysplasia sequence 2016-10-06 criteria provided, single submitter research

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