ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.406A>G (p.Ser136Gly)

dbSNP: rs768580195
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825150 SCV000966419 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Ser136Gly in exon 7 of COL4A5: This variant is not expected to have clinical s ignificance because it has been identified in 0.47% (48/10119) of South Asian ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs768580195).
Invitae RCV000886059 SCV001029542 benign not provided 2024-01-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000886059 SCV001931217 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000886059 SCV001969341 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001830829 SCV002081363 benign X-linked Alport syndrome 2020-01-01 no assertion criteria provided clinical testing

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