ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.142C>T (p.Arg48Trp)

gnomAD frequency: 0.00001  dbSNP: rs1030249829
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002493470 SCV002788458 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2021-11-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277879 SCV001464858 uncertain significance Bardet-Biedl syndrome 2 2020-08-14 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004733220 SCV005357081 uncertain significance BBS2-related disorder 2023-12-08 no assertion criteria provided clinical testing The BBS2 c.142C>T variant is predicted to result in the amino acid substitution p.Arg48Trp. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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