ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.849G>A (p.Gln283=)

dbSNP: rs886042730
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000335552 SCV000336247 uncertain significance not provided 2016-10-19 criteria provided, single submitter clinical testing
GeneDx RCV000335552 SCV001801389 likely benign not provided 2021-04-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000335552 SCV002347582 likely benign not provided 2025-02-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000335552 SCV002545888 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing RAI1: BP4, BP7

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