ClinVar Miner

Submissions for variant NM_001166114.2(PNPLA6):c.3913+23del

dbSNP: rs11307097
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001696896 SCV000581689 benign not provided 2018-05-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001520669 SCV001729833 benign Hereditary spastic paraplegia 39 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789360 SCV002031581 benign Laurence-Moon syndrome 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789358 SCV002031582 benign Ataxia-hypogonadism-choroidal dystrophy syndrome 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789359 SCV002031583 benign Trichomegaly-retina pigmentary degeneration-dwarfism syndrome 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001520669 SCV002031584 benign Hereditary spastic paraplegia 39 2021-10-25 criteria provided, single submitter clinical testing

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