ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1320A>G (p.Arg440=)

gnomAD frequency: 0.00001  dbSNP: rs1430151544
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001433351 SCV001636140 likely benign Bardet-Biedl syndrome 2023-11-06 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003887984 SCV004707618 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Natera, Inc. RCV001278532 SCV001465549 uncertain significance Bardet-Biedl syndrome 1 2020-04-14 no assertion criteria provided clinical testing

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