ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.10405+5G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004961941 SCV005475099 uncertain significance Inborn genetic diseases 2024-08-08 criteria provided, single submitter clinical testing The c.10402+5G>A intronic alteration consists of a G to A substitution nucleotides after coding exon 33 in the PKD1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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