ClinVar Miner

Submissions for variant NM_001851.6(COL9A1):c.831C>A (p.Pro277=)

gnomAD frequency: 0.00017  dbSNP: rs145800598
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000880023 SCV000732820 likely benign not provided 2021-09-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000880023 SCV001023085 likely benign not provided 2024-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004975715 SCV005569504 likely benign Inborn genetic diseases 2024-12-03 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.
Clinical Genetics, Academic Medical Center RCV000607197 SCV001919892 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000880023 SCV001964662 likely benign not provided no assertion criteria provided clinical testing

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