ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.972T>C (p.Gly324=)

dbSNP: rs2136605039
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002075837 SCV002388575 likely benign not provided 2021-08-28 criteria provided, single submitter clinical testing
Hadassah Hebrew University Medical Center RCV005232832 SCV005880344 likely pathogenic Stickler syndrome type 1 criteria provided, single submitter clinical testing

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