ClinVar Miner

Submissions for variant NM_198428.3(BBS9):c.329-6C>T

dbSNP: rs1445078208
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002527769 SCV000636557 likely benign Bardet-Biedl syndrome 2023-12-28 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000525600 SCV001797739 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000525600 SCV001970399 likely benign not provided no assertion criteria provided clinical testing

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