ClinVar Miner

Submissions for variant NM_014225.6(PPP2R1A):c.539T>G (p.Met180Arg)

dbSNP: rs1600167941
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli RCV001420230 SCV001622650 likely pathogenic See cases 2021-04-26 criteria provided, single submitter clinical testing PM1_moderate;PM2_supporting;PM5_moderate;PM6_moderate;PP2_supporting;PP3_supporting

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