ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1489C>A (p.Pro497Thr)

dbSNP: rs1194392195
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001278533 SCV002815716 uncertain significance Bardet-Biedl syndrome 1 2022-02-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278533 SCV001465550 uncertain significance Bardet-Biedl syndrome 1 2020-04-14 no assertion criteria provided clinical testing

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