ClinVar Miner

Submissions for variant NM_001166114.2(PNPLA6):c.3699+41C>T

gnomAD frequency: 0.41358  dbSNP: rs538850
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001673486 SCV001885330 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789492 SCV002031572 benign Laurence-Moon syndrome 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789490 SCV002031573 benign Ataxia-hypogonadism-choroidal dystrophy syndrome 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789491 SCV002031574 benign Trichomegaly-retina pigmentary degeneration-dwarfism syndrome 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789489 SCV002031576 benign Hereditary spastic paraplegia 39 2021-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001673486 SCV005313142 benign not provided criteria provided, single submitter not provided

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