ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.2968G>A (p.Gly990Arg)

dbSNP: rs1602510452
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles RCV001007659 SCV000998521 likely pathogenic Microcephaly and chorioretinopathy 1 no assertion criteria provided clinical testing

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