ClinVar Miner

Submissions for variant NM_015275.3(WASHC4):c.3236A>G (p.Lys1079Arg)

gnomAD frequency: 0.00003  dbSNP: rs748436953
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000857314 SCV000999916 likely pathogenic Intellectual disability, autosomal recessive 43 2019-06-03 criteria provided, single submitter research
OMIM RCV000857314 SCV002549895 pathogenic Intellectual disability, autosomal recessive 43 2022-07-21 no assertion criteria provided literature only

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