ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.234C>T (p.Thr78=)

gnomAD frequency: 0.00008  dbSNP: rs748732460
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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 RCV001504448 SCV001709325 likely benign Bardet-Biedl syndrome 2024-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003980456 SCV004793930 likely benign BBS1-related disorder 2021-02-05 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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