ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.1969G>A (p.Ala657Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dept Of Ophthalmology, Nagoya University RCV003890665 SCV004705265 likely pathogenic Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV005015084 SCV005651440 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2024-04-15 criteria provided, single submitter clinical testing

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