ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1501G>C (p.Asp501His) (rs150646039)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000193940 SCV000248832 uncertain significance not specified 2015-05-21 criteria provided, single submitter clinical testing
Invitae RCV000873932 SCV001016034 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2019-12-31 criteria provided, single submitter clinical testing

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