ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.1723-1G>C

dbSNP: rs1596582948
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV002052421 SCV002319210 likely pathogenic Polycystic kidney disease, adult type 2022-03-30 criteria provided, single submitter clinical testing The detected change has not yet been described in the literature, the PKD locus-specific database (https://pkdb.mayo.edu/variants) or the ClinVar database (as of March 22, 2022). The variant is not listed in control collectives (gnomAD). In the case of variants that affect the canonical splice site of a gene that matches the phenotype, there is a high probability of pathogenetic relevance. The variant is currently to be regarded as a "likely pathogenic variant" (ACMG criteria).

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