ClinVar Miner

Submissions for variant NM_003076.5(SMARCD1):c.1432dup (p.Arg478fs)

dbSNP: rs2137907876
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001644552 SCV001852721 pathogenic Coffin-Siris syndrome 11 no assertion criteria provided clinical testing

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