ClinVar Miner

Submissions for variant NM_003070.5(SMARCA2):c.3962C>T (p.Thr1321Met)

dbSNP: rs2130626814
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001706781 SCV001934268 likely pathogenic Nicolaides-Baraitser syndrome 2020-10-26 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001706781 SCV005395946 likely pathogenic Nicolaides-Baraitser syndrome 2024-09-25 criteria provided, single submitter clinical testing

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