ClinVar Miner

Submissions for variant NM_002734.4(PRKAR1A):c.1003C>T (p.Arg335Cys) (rs1555815121)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000763414 SCV000894147 likely pathogenic Carney complex, type 1; Pigmented nodular adrenocortical disease, primary, 1; Atrial myxoma, familial; Acrodysostosis 1 with or without hormone resistance 2018-10-31 criteria provided, single submitter clinical testing
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children RCV000497832 SCV000590834 likely pathogenic Acrodysostosis 1 with or without hormone resistance 2016-01-12 criteria provided, single submitter clinical testing

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