ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.332+2_332+3insTT

dbSNP: rs753360929
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001311054 SCV001501083 likely pathogenic not provided 2020-09-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV003462883 SCV004214072 pathogenic Bardet-Biedl syndrome 4 2023-10-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003462883 SCV005630867 likely pathogenic Bardet-Biedl syndrome 4 2024-05-16 criteria provided, single submitter clinical testing

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