ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.4095T>C (p.Asn1365=)

gnomAD frequency: 0.00007  dbSNP: rs367625071
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252185 SCV000308098 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000724913 SCV000332383 uncertain significance not provided 2015-06-28 criteria provided, single submitter clinical testing
GeneDx RCV000724913 SCV000721809 likely benign not provided 2020-06-01 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680490 SCV000807868 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000724913 SCV001595435 likely benign not provided 2023-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004609335 SCV005103878 likely benign Inborn genetic diseases 2024-05-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.

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