ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.585G>A (p.Lys195=)

dbSNP: rs2134773941
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002197614 SCV002357455 likely benign Bardet-Biedl syndrome 2021-07-13 criteria provided, single submitter clinical testing

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