ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1623C>T (p.Gly541=)

gnomAD frequency: 0.00026  dbSNP: rs143951580
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001501697 SCV001706514 likely benign Bardet-Biedl syndrome 2024-02-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501725 SCV002813761 likely benign Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2022-01-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706234 SCV005216481 likely benign not provided criteria provided, single submitter not provided

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