ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3161+5G>C

dbSNP: rs2092552533
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genesis Genoma Lab, Genesis Genoma Lab RCV003634410 SCV004543744 likely pathogenic Polycystic kidney disease, adult type 2024-02-13 criteria provided, single submitter clinical testing This variant was detected in a 28 year old patient with typical polycystic kidney disease and negative family history. The variant was not detected in the patient's parents and it is not included in gnomad database. The variant is predicted pathogenic by spliceAI and dbscSNV algorithms. ACMG criteria PS2, PP2, PP3 Moderate

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