ClinVar Miner

Submissions for variant NM_152384.3(BBS5):c.18G>C (p.Ala6=)

gnomAD frequency: 0.00001  dbSNP: rs202051938
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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 RCV000951759 SCV001098189 likely benign Bardet-Biedl syndrome 2024-05-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004753136 SCV005363763 likely benign BBS5-related disorder 2021-08-10 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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