ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3745G>A (p.Asp1249Asn)

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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 RCV004556898 SCV005045546 uncertain significance Polycystic kidney disease, adult type 2022-10-14 criteria provided, single submitter clinical testing ACMG Criteria: PM2_SUP, PP3, PP4 (ACMG Version 4)

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