ClinVar Miner

Submissions for variant NM_001166114.2(PNPLA6):c.1705G>T (p.Gly569Trp)

dbSNP: rs587777615
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000133462 SCV000188497 pathogenic Ataxia-hypogonadism-choroidal dystrophy syndrome 2014-01-01 no assertion criteria provided literature only
GeneReviews RCV000133462 SCV000189837 not provided Ataxia-hypogonadism-choroidal dystrophy syndrome no assertion provided literature only

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