ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1011G>A (p.Leu337=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001425726 SCV001628363 likely benign Bardet-Biedl syndrome 2019-12-22 criteria provided, single submitter clinical testing

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