ClinVar Miner

Submissions for variant NM_032271.3(TRAF7):c.943_944delinsGG (p.Leu315Gly)

dbSNP: rs2545006585
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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 RCV003992080 SCV004811968 uncertain significance Cardiac, facial, and digital anomalies with developmental delay 2023-11-02 criteria provided, single submitter clinical testing ACMG Criteria: PM2_SUP,PP3

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