ClinVar Miner

Submissions for variant NM_021807.4(EXOC4):c.1733A>G (p.Gln578Arg)

dbSNP: rs730882233
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000162153 SCV000196439 likely pathogenic Meckel-Gruber syndrome 2014-12-01 no assertion criteria provided research

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