ClinVar Miner

Submissions for variant NM_170675.5(MEIS2):c.120C>T (p.Asn40=)

gnomAD frequency: 0.00011  dbSNP: rs144628203
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002132639 SCV002435212 likely benign Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 2021-05-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003408140 SCV004136297 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing MEIS2: BP4

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