ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.2877+10G>A

dbSNP: rs2148500039
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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 RCV001469508 SCV001673588 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2019-12-06 criteria provided, single submitter clinical testing

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