ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.159+14C>T

gnomAD frequency: 0.00004  dbSNP: rs758468091
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248014 SCV000314359 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003633491 SCV004453322 likely benign Bardet-Biedl syndrome 2024-01-29 criteria provided, single submitter clinical testing

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