ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.3699C>T (p.Pro1233=)

gnomAD frequency: 0.00023  dbSNP: rs141944722
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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) RCV000593064 SCV000708385 uncertain significance not provided 2017-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000593064 SCV001635725 likely benign not provided 2024-12-12 criteria provided, single submitter clinical testing
GeneDx RCV000593064 SCV001819104 likely benign not provided 2020-09-28 criteria provided, single submitter clinical testing

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