ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.2038C>T (p.Gln680Ter)

dbSNP: rs1555520220
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674824 SCV000800225 likely pathogenic Bardet-Biedl syndrome 2 2018-05-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV000674824 SCV004214024 likely pathogenic Bardet-Biedl syndrome 2 2023-07-05 criteria provided, single submitter clinical testing

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