ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.509A>G (p.Asp170Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, Erciyes University Faculty of Medicine RCV004691639 SCV004543752 likely pathogenic Bardet-Biedl syndrome 2 2024-02-01 no assertion criteria provided clinical testing

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