ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.243C>T (p.Gly81=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002917280 SCV003249066 likely benign Bardet-Biedl syndrome 2024-11-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005019442 SCV005644089 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2024-01-28 criteria provided, single submitter clinical testing

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