ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.2570C>T (p.Ser857Leu)

gnomAD frequency: 0.00013  dbSNP: rs145861489
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177640 SCV000229541 uncertain significance not provided 2016-02-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000177640 SCV003231954 benign not provided 2023-08-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000177640 SCV003828163 likely benign not provided 2023-12-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000177640 SCV005192219 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004539653 SCV004783369 likely benign COL4A1-related disorder 2022-09-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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