ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.2326G>A (p.Val776Met)

gnomAD frequency: 0.00185  dbSNP: rs145476116
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175187 SCV000226629 benign not specified 2015-02-10 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000175187 SCV000613709 likely benign not specified 2016-09-15 criteria provided, single submitter clinical testing
Invitae RCV000892780 SCV001036679 likely benign not provided 2023-12-18 criteria provided, single submitter clinical testing
GeneDx RCV000892780 SCV001857764 benign not provided 2021-02-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002516663 SCV003699091 likely benign Inborn genetic diseases 2022-02-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV000892780 SCV004123472 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing HSPG2: BS2

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