ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.2060-1G>T

dbSNP: rs1555520142
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671300 SCV000796261 likely pathogenic Bardet-Biedl syndrome 2 2017-12-08 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074105 SCV001239674 likely pathogenic Retinal dystrophy 2019-01-05 criteria provided, single submitter clinical testing

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