ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.1658T>G (p.Leu553Arg)

dbSNP: rs2145971047
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001533124 SCV001748944 likely pathogenic SMARCA4-related BAFopathy 2021-06-10 criteria provided, single submitter clinical testing

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