ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.264A>G (p.Ser88=)

gnomAD frequency: 0.00001  dbSNP: rs746574978
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
Eurofins Ntd Llc (ga) RCV000592348 SCV000708917 uncertain significance not provided 2017-05-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000592348 SCV001661764 likely benign not provided 2023-03-23 criteria provided, single submitter clinical testing

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