ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.4295C>T (p.Thr1432Met)

gnomAD frequency: 0.00001  dbSNP: rs754666072
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002464929 SCV002759247 uncertain significance not provided 2022-06-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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