ClinVar Miner

Submissions for variant NM_152384.3(BBS5):c.108C>T (p.Ser36=)

gnomAD frequency: 0.02951  dbSNP: rs16823066
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244112 SCV000316155 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000468328 SCV000563608 benign Bardet-Biedl syndrome 2024-01-31 criteria provided, single submitter clinical testing

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