ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.4585C>T (p.Arg1529Cys)

gnomAD frequency: 0.00034  dbSNP: rs144557024
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001149053 SCV001309984 uncertain significance Epidermolysis bullosa dystrophica 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001858979 SCV002201710 likely benign not provided 2024-01-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480546 SCV002793860 uncertain significance Recessive dystrophic epidermolysis bullosa; Pretibial dystrophic epidermolysis bullosa; Dominant dystrophic epidermolysis bullosa with absence of skin; Transient bullous dermolysis of the newborn; Epidermolysis bullosa pruriginosa; Nonsyndromic congenital nail disorder 8; Generalized dominant dystrophic epidermolysis bullosa 2022-05-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280117 SCV001467270 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-06-24 no assertion criteria provided clinical testing

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