ClinVar Miner

Submissions for variant NM_020800.3(IFT80):c.2048G>T (p.Gly683Val)

gnomAD frequency: 0.00001  dbSNP: rs1302753011
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001263245 SCV005660353 likely pathogenic Asphyxiating thoracic dystrophy 2 2024-02-17 criteria provided, single submitter clinical testing
OMIM RCV001263245 SCV001441274 pathogenic Asphyxiating thoracic dystrophy 2 2020-11-09 no assertion criteria provided literature only

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