ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.1000_1001insGA (p.Leu334Ter)

gnomAD frequency: 0.00001  dbSNP: rs1555202657
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670552 SCV000795415 likely pathogenic Bardet-Biedl syndrome 10 2017-11-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000670552 SCV002809899 likely pathogenic Bardet-Biedl syndrome 10 2022-01-01 criteria provided, single submitter clinical testing

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