ClinVar Miner

Submissions for variant NM_013296.5(GPSM2):c.1062+1G>T (rs777695770)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507416 SCV000603857 pathogenic not specified 2016-11-02 criteria provided, single submitter clinical testing
OMIM RCV000029166 SCV000051811 pathogenic Chudley-McCullough syndrome 2012-06-08 no assertion criteria provided literature only

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