ClinVar Miner

Submissions for variant NM_031885.4(BBS2):c.1110T>C (p.Ala370=) (rs148990271)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152836 SCV000202232 benign not specified 2014-04-29 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589907 SCV000699647 benign not provided 2016-01-11 criteria provided, single submitter clinical testing
Invitae RCV001086074 SCV001001543 benign Bardet-Biedl syndrome 2019-12-31 criteria provided, single submitter clinical testing

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