ClinVar Miner

Submissions for variant NM_178012.5(TUBB2B):c.767A>G (p.Asn256Ser) (rs397514568)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000032933 SCV000056705 pathogenic Polymicrogyria, asymmetric 2012-09-01 no assertion criteria provided literature only
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000032933 SCV000854644 uncertain significance Polymicrogyria, asymmetric 2018-11-12 no assertion criteria provided clinical testing The observed variant c.767A>G (p.Asn256Ser) has not been reported in 1000 Genomes and ExAC databases. The in silico prediction of the given variant is possibly damaging by PolyPhen-2 and damaging by MutationTaster2, SIFT and LRT.

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