ClinVar Miner

Submissions for variant NM_001166114.2(PNPLA6):c.2260+24G>A

gnomAD frequency: 0.50240  dbSNP: rs473899
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001722690 SCV001949383 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789557 SCV002031537 benign Laurence-Moon syndrome 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789555 SCV002031538 benign Ataxia-hypogonadism-choroidal dystrophy syndrome 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789556 SCV002031539 benign Trichomegaly-retina pigmentary degeneration-dwarfism syndrome 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789554 SCV002031540 benign Hereditary spastic paraplegia 39 2021-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001722690 SCV005313114 benign not provided criteria provided, single submitter not provided

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