ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.1006dup (p.Arg336fs)

dbSNP: rs1569031388
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000678708 SCV000804873 likely pathogenic not specified 2016-08-30 no assertion criteria provided clinical testing

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