ClinVar Miner

Submissions for variant NM_001853.4(COL9A3):c.1602C>T (p.Ser534=)

gnomAD frequency: 0.00039  dbSNP: rs146578812
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176930 SCV000228707 uncertain significance not provided 2014-10-31 criteria provided, single submitter clinical testing
Invitae RCV000176930 SCV001069042 likely benign not provided 2024-01-20 criteria provided, single submitter clinical testing
GeneDx RCV000176930 SCV001795358 likely benign not provided 2021-05-20 criteria provided, single submitter clinical testing

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