ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.3711+17A>G

gnomAD frequency: 0.00007  dbSNP: rs376488082
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002219127 SCV002376864 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2023-01-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507923 SCV002807852 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2022-02-04 criteria provided, single submitter clinical testing

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