ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.6623G>A (p.Gly2208Glu)

gnomAD frequency: 0.00001  dbSNP: rs1197105310
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000786936 SCV000925840 likely pathogenic Retinitis pigmentosa 25 2019-01-28 no assertion criteria provided clinical testing

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