ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.1669A>G (p.Ile557Val)

gnomAD frequency: 0.00167  dbSNP: rs139719799
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000243352 SCV000314384 benign not specified criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000243352 SCV000593587 likely benign not specified 2016-02-16 criteria provided, single submitter clinical testing
Invitae RCV000638386 SCV000759893 likely benign Bardet-Biedl syndrome 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274501 SCV001458730 likely benign Bardet-Biedl syndrome 10 2020-09-16 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001699273 SCV001925193 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000243352 SCV001930525 benign not specified no assertion criteria provided clinical testing

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