ClinVar Miner

Submissions for variant NM_002578.5(PAK3):c.431-26A>G

gnomAD frequency: 0.16664  dbSNP: rs16986385
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001612550 SCV001842303 benign not provided 2021-06-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788629 SCV002029376 benign Intellectual disability, X-linked 30 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001612550 SCV005277885 benign not provided criteria provided, single submitter not provided

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