ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.2975+8G>A

gnomAD frequency: 0.00001  dbSNP: rs750348734
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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 RCV001498189 SCV001702931 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2023-11-19 criteria provided, single submitter clinical testing

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