ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.3564C>G (p.Tyr1188Ter)

dbSNP: rs2272457
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
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV000782020 SCV000920484 pathogenic not provided 2018-05-03 criteria provided, single submitter clinical testing

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