ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.984C>T (p.Leu328=)

dbSNP: rs1285508370
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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 RCV000940960 SCV001086831 likely benign Bardet-Biedl syndrome 2023-10-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273852 SCV001457437 likely benign Bardet-Biedl syndrome 2 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004733093 SCV005366854 likely benign BBS2-related disorder 2022-11-10 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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