ClinVar Miner

Submissions for variant NM_001166114.2(PNPLA6):c.2634+38G>C

dbSNP: rs599328
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001597434 SCV001830983 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789429 SCV002031546 benign Laurence-Moon syndrome 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789427 SCV002031547 benign Ataxia-hypogonadism-choroidal dystrophy syndrome 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789428 SCV002031548 benign Trichomegaly-retina pigmentary degeneration-dwarfism syndrome 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789426 SCV002031549 benign Hereditary spastic paraplegia 39 2021-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001597434 SCV005313127 benign not provided criteria provided, single submitter not provided

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