ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2748C>T (p.Ser916=)

gnomAD frequency: 0.00005  dbSNP: rs149777511
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003901620 SCV004715165 likely benign PKD1-related disorder 2023-02-17 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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