ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.471+17A>G

gnomAD frequency: 0.00018  dbSNP: rs200587401
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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 RCV001467020 SCV001671032 likely benign Bardet-Biedl syndrome 2024-02-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501616 SCV002804441 likely benign Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2021-12-21 criteria provided, single submitter clinical testing

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