ClinVar Miner

Submissions for variant NM_001846.4(COL4A2):c.4716G>A (p.Pro1572=)

gnomAD frequency: 0.00032  dbSNP: rs201510187
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000932112 SCV001077792 likely benign not provided 2023-10-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001110226 SCV001267634 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
CeGaT Center for Human Genetics Tuebingen RCV000932112 SCV001748414 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing COL4A2: BP4, BP7

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