ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1380G>C (p.Gln460His) (rs79762798)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174354 SCV000225640 uncertain significance not provided 2014-09-03 criteria provided, single submitter clinical testing
Invitae RCV001085070 SCV001129789 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2019-12-31 criteria provided, single submitter clinical testing

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