ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1158G>A (p.Thr386=)

dbSNP: rs199944942
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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 RCV001496157 SCV001700848 likely benign Bardet-Biedl syndrome 2024-03-31 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888225 SCV004705060 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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