ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.130+9G>A

gnomAD frequency: 0.00025  dbSNP: rs367608402
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250803 SCV000315773 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727487 SCV000709028 uncertain significance not provided 2017-05-31 criteria provided, single submitter clinical testing
Invitae RCV001088979 SCV001003788 benign Autosomal recessive polycystic kidney disease 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001088979 SCV001453470 uncertain significance Autosomal recessive polycystic kidney disease 2018-09-12 no assertion criteria provided clinical testing

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