ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.1980G>A (p.Pro660=)

gnomAD frequency: 0.00007  dbSNP: rs778953866
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000863678 SCV001004380 likely benign Bardet-Biedl syndrome 2023-12-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278243 SCV001465241 likely benign Bardet-Biedl syndrome 12 2020-09-18 no assertion criteria provided clinical testing

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