ClinVar Miner

Submissions for variant NM_002039.4(GAB1):c.1460_1462del (p.Met487_Gln488delinsLys)

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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 RCV003991335 SCV004808664 uncertain significance Autosomal recessive nonsyndromic hearing loss 26 2022-07-28 criteria provided, single submitter clinical testing ACMG Criteria: PM4, PM2_SUP, PM3_SUP, PP3

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