ClinVar Miner

Submissions for variant NM_001846.4(COL4A2):c.2044A>G (p.Ile682Val)

gnomAD frequency: 0.00004  dbSNP: rs761867026
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001839349 SCV002099353 uncertain significance Porencephaly 2 2021-02-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003772363 SCV004648098 likely benign not provided 2023-08-16 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001839349 SCV005916652 uncertain significance Porencephaly 2 2023-01-21 criteria provided, single submitter research

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