ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.354G>A (p.Leu118=)

gnomAD frequency: 0.00001  dbSNP: rs757988462
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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 RCV001428975 SCV001631685 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2024-03-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501518 SCV002805339 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2022-04-27 criteria provided, single submitter clinical testing

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