ClinVar Miner

Submissions for variant NM_016247.4(IMPG2):c.1826del (p.Val609fs)

dbSNP: rs1553681433
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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 RCV000625597 SCV000746096 pathogenic Retinitis pigmentosa 56 2017-09-18 no assertion criteria provided clinical testing

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