ClinVar Miner

Submissions for variant NM_022786.3(ARV1):c.565G>A (p.Gly189Arg)

gnomAD frequency: 0.00002  dbSNP: rs730882241
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814076 SCV001755544 likely pathogenic Abnormality of the nervous system 2021-07-10 criteria provided, single submitter clinical testing
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000162175 SCV000196461 likely pathogenic Blindness; Neurodegeneration 2014-12-01 no assertion criteria provided research
OMIM RCV000235018 SCV000292392 pathogenic Developmental and epileptic encephalopathy, 38 2015-01-13 no assertion criteria provided literature only

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