ClinVar Miner

Submissions for variant NM_001846.4(COL4A2):c.888A>G (p.Gly296=)

gnomAD frequency: 0.00777  dbSNP: rs114482753
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000309102 SCV000382622 likely benign Porencephaly 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000960546 SCV001107537 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000960546 SCV001827957 likely benign not provided 2021-06-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000960546 SCV005218308 likely benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000960546 SCV002037034 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000960546 SCV002038461 likely benign not provided no assertion criteria provided clinical testing

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