ClinVar Miner

Submissions for variant NM_005262.3(GFER):c.352C>A (p.Pro118Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV003991175 SCV004808495 uncertain significance Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome 2022-06-28 criteria provided, single submitter clinical testing ACMG Criteria: PM2_SUP, PM3_SUP, PP3

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