ClinVar Miner

Submissions for variant NM_001851.6(COL9A1):c.1107A>G (p.Ala369=)

gnomAD frequency: 0.00003  dbSNP: rs747443799
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000879282 SCV001022303 likely benign not provided 2025-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000879282 SCV001824034 likely benign not provided 2019-08-27 criteria provided, single submitter clinical testing

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