ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8669_8670insTGCCAACTC (p.Ser2896_Val2897insAlaAsnSer)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV005003861 SCV005628406 uncertain significance not provided 2024-07-19 criteria provided, single submitter clinical testing In-frame insertion of three amino acids in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005358178 SCV005912140 uncertain significance Autosomal dominant polycystic kidney disease 2024-06-25 criteria provided, single submitter clinical testing

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