ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.6081C>T (p.Pro2027=)

gnomAD frequency: 0.00010  dbSNP: rs375047225
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000915017 SCV001060212 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001146128 SCV001306848 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.
Natera, Inc. RCV001275988 SCV001461690 benign Epidermolysis bullosa dystrophica inversa, autosomal recessive 2019-12-25 no assertion criteria provided clinical testing

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