ClinVar Miner

Submissions for variant NM_004055.5(CAPN5):c.728G>A (p.Arg243His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DBGen Ocular Genomics RCV003389597 SCV004101743 uncertain significance Occult macular dystrophy 2022-01-01 criteria provided, single submitter clinical testing Class 3 ACMG Guidelines, 2015

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