ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.3589G>C (p.Gly1197Arg) (rs200719553)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712899 SCV000843450 uncertain significance not provided 2018-04-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718163 SCV000849025 likely benign History of neurodevelopmental disorder 2017-06-08 criteria provided, single submitter clinical testing Does not segregate with disease in family study (genes with incomplete penetrance);Subpopulation frequency in support of benign classification
Fulgent Genetics,Fulgent Genetics RCV000765337 SCV000896600 uncertain significance Smith-Magenis syndrome 2018-10-31 criteria provided, single submitter clinical testing

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