ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.861G>T (p.Val287=)

dbSNP: rs1595947650
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000959805 SCV001106735 likely benign Bardet-Biedl syndrome 2023-02-16 criteria provided, single submitter clinical testing

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