ClinVar Miner

Submissions for variant NM_153223.3(CEP120):c.2134C>T (p.Leu712Phe) (rs114280473)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557671 SCV000656624 benign Short-rib thoracic dysplasia 13 with or without polydactyly 2017-07-11 criteria provided, single submitter clinical testing
OMIM RCV000515147 SCV000611115 pathogenic JOUBERT SYNDROME 31 2018-02-09 no assertion criteria provided literature only

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