ClinVar Miner

Submissions for variant NM_000554.6(CRX):c.898T>C (p.Ter300Gln)

dbSNP: rs1599992745
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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 RCV001029942 SCV001192738 likely pathogenic Cone-rod dystrophy 2 2019-06-24 no assertion criteria provided clinical testing

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