ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.4061A>G (p.Asn1354Ser)

gnomAD frequency: 0.00004  dbSNP: rs200621622
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001760761 SCV001990537 uncertain significance not provided 2024-09-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (HGMD); Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001760761 SCV002219591 benign not provided 2024-08-07 criteria provided, single submitter clinical testing

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