ClinVar Miner

Submissions for variant NM_005199.5(CHRNG):c.1180C>G (p.Pro394Ala)

gnomAD frequency: 0.00001  dbSNP: rs771886490
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001844329 SCV001870450 uncertain significance Lethal multiple pterygium syndrome 2021-04-29 no assertion criteria provided research

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