ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1485T>C (p.Leu495=)

gnomAD frequency: 0.00003  dbSNP: rs373894194
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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 RCV000868626 SCV001009980 likely benign Bardet-Biedl syndrome 2024-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501281 SCV002808675 likely benign Bardet-Biedl syndrome 1 2022-05-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965724 SCV004785004 likely benign BBS1-related disorder 2019-03-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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