ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8619C>T (p.Thr2873=)

gnomAD frequency: 0.00002  dbSNP: rs143419418
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000254439 SCV000305799 likely benign not specified criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003417856 SCV004142833 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing PKD1: BP4, BP7

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