ClinVar Miner

Submissions for variant NM_001101.5(ACTB):c.34A>C (p.Asn12His)

dbSNP: rs281875331
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics, Robert DEBRE University Hospital RCV000133569 SCV000148633 pathogenic Baraitser-Winter syndrome 1 2014-04-15 no assertion criteria provided clinical testing

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