ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.157del (p.Ser53fs)

dbSNP: rs2543741926
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003465043 SCV004213981 likely pathogenic Bardet-Biedl syndrome 2 2023-10-26 criteria provided, single submitter clinical testing

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