ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1446C>T (p.Ser482=)

dbSNP: rs1283642215
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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 RCV002736809 SCV003018437 likely benign Bardet-Biedl syndrome 2023-02-26 criteria provided, single submitter clinical testing

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