ClinVar Miner

Submissions for variant NM_001853.4(COL9A3):c.1726G>A (p.Ala576Thr)

gnomAD frequency: 0.00180  dbSNP: rs116005499
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177461 SCV000229320 benign not specified 2015-05-19 criteria provided, single submitter clinical testing
Invitae RCV000905459 SCV001050044 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000905459 SCV001810825 likely benign not provided 2020-10-19 criteria provided, single submitter clinical testing

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