ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8744A>G (p.Asn2915Ser)

gnomAD frequency: 0.00008  dbSNP: rs533221512
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003227269 SCV003923631 uncertain significance not provided 2025-03-31 criteria provided, single submitter clinical testing Identified with a second variant (phase unknown) in a patient with polycystic kidney disease in published literature (PMID: 30333007); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 35620448, 30333007)

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