ClinVar Miner

Submissions for variant NM_002742.3(PRKD1):c.646C>G (p.Arg216Gly)

dbSNP: rs145651161
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000903323 SCV001047784 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV001002742 SCV001160737 uncertain significance Premature ovarian failure 2019-04-22 criteria provided, single submitter research This variant was identified as homozygous in a female individual with hypergonadotropic hypogonadism and obesity. It was considered in conjuction with homozygous variants in CHD7 and MCM9 as causitive for the phenotype.

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