ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1590A>G (p.Pro530=)

dbSNP: rs1296939877
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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 RCV002625421 SCV002954349 likely benign Bardet-Biedl syndrome 2022-09-01 criteria provided, single submitter clinical testing

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