ClinVar Miner

Submissions for variant NM_005032.7(PLS3):c.321T>A (p.Gly107=)

gnomAD frequency: 0.01269  dbSNP: rs140121121
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000607293 SCV000728875 benign not specified 2018-01-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV002054923 SCV002441590 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277139 SCV002564989 benign Osteogenesis imperfecta 2022-03-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000074381 SCV004564164 benign Bone mineral density quantitative trait locus 18 2023-10-26 criteria provided, single submitter clinical testing
OMIM RCV000074381 SCV000105988 association Bone mineral density quantitative trait locus 18 2013-10-17 no assertion criteria provided literature only

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