ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.120C>T (p.Cys40=)

dbSNP: rs1224146191
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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 RCV001421465 SCV001623989 likely benign Bardet-Biedl syndrome 2020-08-22 criteria provided, single submitter clinical testing

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