ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.2130G>A (p.Leu710=)

dbSNP: rs2543670223
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003858033 SCV004653744 likely benign Bardet-Biedl syndrome 2023-12-24 criteria provided, single submitter clinical testing

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