ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.2195G>T (p.Gly732Val)

dbSNP: rs1360258103
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Total submissions: 2
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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 RCV003992391 SCV004810030 likely pathogenic Usher syndrome type 2A 2024-04-04 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000786945 SCV000925850 likely pathogenic Retinitis pigmentosa 39 2019-02-14 no assertion criteria provided clinical testing

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