ClinVar Miner

Submissions for variant NM_001693.4(ATP6V1B2):c.1120G>C (p.Glu374Gln)

dbSNP: rs1135401772
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000496102 SCV000586714 likely pathogenic Zimmermann-Laband syndrome 2 2017-08-01 criteria provided, single submitter clinical testing De novo missense variant in a patient with severe ID, hypotonia, microcephaly, three seizures.

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