ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1528-15G>T

gnomAD frequency: 0.00008  dbSNP: rs368282063
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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 RCV002213018 SCV002368323 likely benign Bardet-Biedl syndrome 2024-01-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494120 SCV002803360 likely benign Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2021-10-23 criteria provided, single submitter clinical testing

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