ClinVar Miner

Submissions for variant NM_005199.5(CHRNG):c.301_309dup (p.Arg101_Pro103dup)

dbSNP: rs863223313
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003144107 SCV003830641 uncertain significance not provided 2021-08-20 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000020005 SCV005438538 uncertain significance Autosomal recessive multiple pterygium syndrome 2024-12-18 criteria provided, single submitter clinical testing
OMIM RCV000020005 SCV000040303 pathogenic Autosomal recessive multiple pterygium syndrome 2006-08-01 no assertion criteria provided literature only

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