ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1039G>A (p.Asp347Asn)

gnomAD frequency: 0.00003  dbSNP: rs199942159
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413695 SCV000492205 uncertain significance not provided 2023-02-16 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Acke et al., 2014; HGMD); In silico analysis supports that this missense variant does not alter protein structure/function
Invitae RCV000413695 SCV001504350 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing

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