ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.117+17G>T

gnomAD frequency: 0.00001  dbSNP: rs201119943
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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 RCV002218143 SCV002369399 likely benign Bardet-Biedl syndrome 2024-06-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507913 SCV002808052 likely benign Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2021-12-06 criteria provided, single submitter clinical testing

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