ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.2442+9G>C

dbSNP: rs771351250
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002088985 SCV002436559 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2022-03-18 criteria provided, single submitter clinical testing

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