ClinVar Miner

Submissions for variant NM_170675.5(MEIS2):c.877G>C (p.Ala293Pro)

dbSNP: rs1385058993
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335517 SCV001528682 likely pathogenic Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 2018-04-19 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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