ClinVar Miner

Submissions for variant NM_170675.5(MEIS2):c.968T>G (p.Val323Gly)

dbSNP: rs2141389703
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001814913 SCV002061830 likely pathogenic Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 2021-04-23 criteria provided, single submitter clinical testing PS2, PP3, PM1, PM2

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