ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.21C>T (p.Val7=)

gnomAD frequency: 0.00004  dbSNP: rs754702110
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000867919 SCV001009193 likely benign Bardet-Biedl syndrome 2024-01-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938282 SCV004754800 likely benign BBS12-related condition 2020-09-09 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001275671 SCV001460974 likely benign Bardet-Biedl syndrome 12 2020-09-16 no assertion criteria provided clinical testing

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