ClinVar Miner

Submissions for variant NM_005052.3(RAC3):c.184G>A (p.Glu62Lys)

dbSNP: rs1064797229
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000487500 SCV000575128 pathogenic not provided 2020-07-01 criteria provided, single submitter clinical testing
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli RCV001420301 SCV001622721 pathogenic See cases 2021-04-26 criteria provided, single submitter clinical testing PP5_very strong;PM2_supporting;PP2_supporting;PP3_supporting
OMIM RCV000850261 SCV000992433 pathogenic Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies 2022-11-08 no assertion criteria provided literature only

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